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demonstrated decreased DNA binding with and without CBFβ (Fig. 4C).", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA916084356/MONDO:0011071/008/ci/EV000001211", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/11276260", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA916084356/MONDO:0011071/008/ci/EV000001210", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": " Yeast one-hybrid assay was for DNA interaction (Fig. 1A), whereas yeast two-hybrid assay was for CBFβ interaction (Fig. 1B); both used lacZ as the reporter gene. R135A severely affected DNA-binding (--) and does not affect binding to CBFβ (++) (Table 1).\n Electrophoretic mobility shift assays (EMSA) were used to measure equilibrium binding constants (biochemical assay) (Fig. 4A). R135A resulted in an 80-fold increase in K2 over wildtype (i.e. impaired DNA binding) (Table IV). 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"https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA916084356/MONDO:0011071/008/ci/CA916084356/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA916084356/MONDO:0011071/008/0/1765/1767", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA916084356/MONDO:0011071/008/1/1766", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA916084356/MONDO:0011071/008/0/1765", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA916084356/MONDO:0011071/008/el/0/1663", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA916084356/MONDO:0011071/008/ei/1/1664", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA916084356/MONDO:0011071/008/el/0/1663/1665", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA916084356/MONDO:0011071/008/ci/CA916084356/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA916084356/MONDO:0011071/008/ci/CA916084356/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA916084356/MONDO:0011071/008/0/1663/1665", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA916084356/MONDO:0011071/008/1/1664", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA916084356/MONDO:0011071/008/0/1663", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA916084356/MONDO:0011071/008/el/0/1828", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA916084356/MONDO:0011071/008/ei/1/1829", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA916084356/MONDO:0011071/008/el/0/1828/1830", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA916084356/MONDO:0011071/008/ci/EV000001211", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "R135A demonstrated decreased DNA binding with and without CBFβ (Fig. 4C).", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA916084356/MONDO:0011071/008/ci/EV000001211", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/11276260", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA916084356/MONDO:0011071/008/ci/EV000001210", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": " Yeast one-hybrid assay was for DNA interaction (Fig. 1A), whereas yeast two-hybrid assay was for CBFβ interaction (Fig. 1B); both used lacZ as the reporter gene. R135A severely affected DNA-binding (--) and does not affect binding to CBFβ (++) (Table 1).\n Electrophoretic mobility shift assays (EMSA) were used to measure equilibrium binding constants (biochemical assay) (Fig. 4A). R135A resulted in an 80-fold increase in K2 over wildtype (i.e. impaired DNA binding) (Table IV). R135A also resulted in a 100-fold increase in K4 over wildtype (i.e. reduced affinity between RD-CBFβ and DNA, but not abolished) (Table IV) and the decrease in K2/K4 (9.3 versus 11.8 for WT) indicates that this mutant would make the runt domain slightly less sensitive to allosteric regulation by CBFβ (Table IV)\n Variants that showed comparable CBFβ-binding to WT in the yeast two-hybrid assay (++ in Table I) were subjected to the modified yeast one-hybrid assay. β-galactosidase activity was detectable in the modified yeast one-hybrid assay for R135A with CBFβ (without CBFβ is control) (Fig. 5B)\n R135A seems to perturb the overall structure of the protein by NMR spectroscopy (Table II), so D50 measurements, which represent the concentration of urea at which half of the molecules are unfolded, were performed and showed a lower value compared to WT = “somewhat destabilized” (Table III)", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA916084356/MONDO:0011071/008/ci/EV000001210", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/12807882", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA916084356/MONDO:0011071/008/ci/EV000001716", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "“The R135 → A change completely abolished DNA binding, even in the presence of CBFβ. The R135 → K mutant retained some activity, but only when CBFβ was added (Figure 3), implying a more significant role for R135 in DNA binding.”", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA916084356/MONDO:0011071/008/ci/EV000001716", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/9533875", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA916084356/MONDO:0011071/008/0/1828/1830", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA916084356/MONDO:0011071/008/1/1829", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA916084356/MONDO:0011071/008/0/1828", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA916084356/MONDO:0011071/008/el/0/1735", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA916084356/MONDO:0011071/008/ei/1/1736", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA916084356/MONDO:0011071/008/el/0/1735/1737", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA916084356/MONDO:0011071/008/ci/CA916084356/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "No case reports of the variant in the literature (ClinVar, HGMD, LOVD, COSMIC).", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA916084356/MONDO:0011071/008/ci/CA916084356/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA916084356/MONDO:0011071/008/0/1735/1737", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA916084356/MONDO:0011071/008/1/1736", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA916084356/MONDO:0011071/008/0/1735", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA916084356/MONDO:0011071/008/el/0/1585", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA916084356/MONDO:0011071/008/ei/1/1586", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA916084356/MONDO:0011071/008/el/0/1585/1587", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA916084356/MONDO:0011071/008/ci/EV000001203", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "“DNA binding is mediated by 3 loops called loop(βA'-B), loop(βE'-F), and C-terminal tail in the runt domain, and the amino acid residues (Arg80, Lys83, Thr84, Arg135, Arg139, Gly141, Arg142, Gly143, Ile168, Thr169, Val170, Asp171, Arg174, and Arg177) that directly contact the DNA were determined. Half of these residues (Arg80, Lys83, Arg135, Arg139, Asp171, Arg174, and Arg177) were found to be the targets of amino acid replacement by missense mutations in de novo MDS/AML and/or FPD/AML pedigrees in previous reports.\"", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA916084356/MONDO:0011071/008/ci/EV000001203", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/12393679", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA916084356/MONDO:0011071/008/ci/EV000001208", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "“In Runx1, Arg135 and Arg139 interact with G105–A107 and G4–C6, respectively (green), while Arg80 interacts with A106–T107, and Lys83 interacts with T107, T109, and A7 (yellow).”", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA916084356/MONDO:0011071/008/ci/EV000001208", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/28231333", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA916084356/MONDO:0011071/008/ci/EV000001209", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "“In addition, four amino acids located on β9, L9, and β12, including Arg135, Arg139, Gly143, and Lys167 (Arg135 is not shown in Figure 3A for clarity), make direct contacts with the DNA backbone 29, 30… When anchored on the DNA helix, the three “sequence-specific” loops are maintained by “in-line” van der Waals interactions from Pro173 via His78 and Lys167 to the backbone of L9 as well as by a nearly linear array of salt bridge and attractive interactions of the type CH3…O and CH3…NH2 formed by Arg174, Asp171, Val170, and Arg139 (shown in Figure 3A)... Disease-related mutations in amino acids that form nonspecific contacts with the DNA backbone, Arg135Gly [43], Arg139Gln 37, 41, and Arg139Gly [42], should also be attributed to the loss of interactions that support protein loops (L3 by Arg135 and L9 by Arg139) at the protein-DNA interface Figure 3, Figure 4.”", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA916084356/MONDO:0011071/008/ci/EV000001209", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/12377125", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA916084356/MONDO:0011071/008/ci/EV000000822", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "\"The mutations occurring in these residues, such as R80C, R80G, K83Q, K83R, R135K, R135S, R139Q, R139L, D171Y, D171G, and R174Q detected in this study, would result in loss of hydrogen bonding interaction to DNA or disruption of the folding architecture of RUNX1; additional S114P and S114W were supposed to abolish heterodimerization with CBF-β.39\" However, the cited article (PMID: 11257229) does not include this variant in its evaluation.\"", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA916084356/MONDO:0011071/008/ci/EV000000822", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/19808697", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA916084356/MONDO:0011071/008/ci/EV000001211", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "\"At the 5′ end of the consensus-binding site, strand βE′ (Arg 135) and loop βA′–B (Lys 83 and Thr 84) contact the phosphate backbone of DNA strand E (T2, T3 and G4) (Fig. 2a).\"", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA916084356/MONDO:0011071/008/ci/EV000001211", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/11276260", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA916084356/MONDO:0011071/008/ci/EV000001212", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "A computational tool, Hotspot3D, identified a spatial hotspot cluster in RUNX1 that includes Arg162.", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA916084356/MONDO:0011071/008/ci/EV000001212", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/27294619", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA916084356/MONDO:0011071/008/ci/EV000001210", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "“Ten of 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"comments": "Absent from gnomAD with a mean coverage of at least 20X (v2 and v3).", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA916084356/MONDO:0011071/008/ci/CA916084356/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA916084356/MONDO:0011071/008/0/1636/1638", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA916084356/MONDO:0011071/008/1/1637", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA916084356/MONDO:0011071/008/0/1636", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA916084356/MONDO:0011071/008", "metadata": { "created": "2026-04-29T21:10:46.345Z", "note": "DISCLAIMER: While the data/content in this document is approved by ClinGen expert panel(s), the SEPIO schema presented here is an initial prototype and has not been reviewed nor finalized by the ClinGen Data Exchange Modeling Team. We expect it to differ significantly from the final schema.", "producedAtUTC": "Wed, 29 Apr 2026 21:10:46 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "2.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26332-9", "id": "LN:LA26332-9", "label": "Likely Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "2a550576-958a-4225-ac13-e4f4abd6c845", "variant": { "@id": "https://reg.genome.network/allele/CA916084356", "id": "CAR:CA916084356", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_001754.5:c.484_485delinsGC" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_001754.5(RUNX1):c.484_485delinsGC (p.Arg162Ala)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-11-05T01:29:10.766Z" } }, "status": { "code": 200, "name": "OK" } }