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Variant also led to unstable protein; 80% degraded after 8 hours of cycloheximide tx (WT unchanged).", "contributionDate": { "date": "2018/12/10", "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": "CA000381/MONDO:0017623/003/ci/EV000000286", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/26579216", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA000381/MONDO:0017623/003/ci/EV000000282", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50012_EP15519033251287", "id": "CG-PCER-AGENT:CG_50012_EP15519033251287", "type": "Agent" }, "comments": "Article not yet available; per abstract, variant unable to rescue neuronal hypertrophy in mice (WT able to do so).", "contributionDate": { "date": "2018/12/10", "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": "CA000381/MONDO:0017623/003/ci/EV000000282", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/29373119", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA000381/MONDO:0017623/003/ci/EV000000289", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50012_EP15519033251287", "id": "CG-PCER-AGENT:CG_50012_EP15519033251287", "type": "Agent" }, "comments": "H93R prefers to bind Phosphatidylserine (PS) ?over PIP3 and has high affinity for plasma membrane; similar to Redfern results.", "contributionDate": { "date": "2018/12/10", "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": "CA000381/MONDO:0017623/003/ci/EV000000289", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/22505997", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA000381/MONDO:0017623/003/ci/EV000000288", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50012_EP15519033251287", "id": "CG-PCER-AGENT:CG_50012_EP15519033251287", "type": "Agent" }, "comments": "Variant led to catalytic activity of 3% compared to WT as measured by thermostability.", "contributionDate": { "date": "2018/12/10", "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": "CA000381/MONDO:0017623/003/ci/EV000000288", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/25647146", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA000381/MONDO:0017623/003/ci/EV000000271", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50012_EP15519033251287", "id": "CG-PCER-AGENT:CG_50012_EP15519033251287", "type": "Agent" }, "comments": "variant abundance in “possibly WT-like” range, indicating no striking impact on protein stability", "contributionDate": { "date": "2018/12/10", "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": "CA000381/MONDO:0017623/003/ci/EV000000271", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/29785012", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA000381/MONDO:0017623/003/ci/EV000000272", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50012_EP15519033251287", "id": "CG-PCER-AGENT:CG_50012_EP15519033251287", "type": "Agent" }, "comments": "Variant looks to have partial phosphatase activity, capable of rescuing cell growth on yeast assay. Would not apply criteria.", "contributionDate": { "date": "2018/12/10", "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": "CA000381/MONDO:0017623/003/ci/EV000000272", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/21828076", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA000381/MONDO:0017623/003/ci/EV000000291", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50012_EP15519033251287", "id": "CG-PCER-AGENT:CG_50012_EP15519033251287", "type": "Agent" }, "comments": "Studies focused on this variant. In U87MG cells, led to 15% of WT phosphatase activity (C124S was totally null) and increased pAKT expression on Western blot. Variant led to enhanced plasma membrane association. Article calls variant \"autism-related\" but doesn't provide citation for that assertion.", "contributionDate": { "date": "2018/12/10", "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": "CA000381/MONDO:0017623/003/ci/EV000000291", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/20718038", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA000381/MONDO:0017623/003/ci/EV000000266", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50012_EP15519033251287", "id": "CG-PCER-AGENT:CG_50012_EP15519033251287", "type": "Agent" }, "comments": "score 0.03, in “wild type-like” range", "contributionDate": { "date": "2018/12/10", "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": "CA000381/MONDO:0017623/003/ci/EV000000266", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/29706350", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA000381/MONDO:0017623/003/0/1696/1698", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA000381/MONDO:0017623/003/1/1697", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA000381/MONDO:0017623/003/0/1696", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA000381/MONDO:0017623/003/el/0/1672", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA000381/MONDO:0017623/003/ei/1/1673", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50012_EP15519033251287", "id": "CG-PCER-AGENT:CG_50012_EP15519033251287", "type": "Agent" }, "contributionDate": { "date": "2018/12/10", "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/CA000381/MONDO:0017623/003/el/0/1672/1674", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA000381/MONDO:0017623/003/ci/EV000000283", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50012_EP15519033251287", "id": "CG-PCER-AGENT:CG_50012_EP15519033251287", "type": "Agent" }, "comments": "De novo (paternity but not maternity confirmed by genotyping) in boy with extreme macrocephaly, autism/DD, enlarged perivascular spaces.", "contributionDate": { "date": "2018/12/10", "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": "CA000381/MONDO:0017623/003/ci/EV000000283", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/15805158", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA000381/MONDO:0017623/003/0/1672/1674", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA000381/MONDO:0017623/003/1/1673", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA000381/MONDO:0017623/003/0/1672", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA000381/MONDO:0017623/003/el/0/1798", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA000381/MONDO:0017623/003/ei/1/1799", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50012_EP15519033251287", "id": "CG-PCER-AGENT:CG_50012_EP15519033251287", "type": "Agent" }, "contributionDate": { "date": "2018/12/10", "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/CA000381/MONDO:0017623/003/el/0/1798/1800", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA000381/MONDO:0017623/003/ci/CA000381/MONDO:0017623/003.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50012_EP15519033251287", "id": "CG-PCER-AGENT:CG_50012_EP15519033251287", "type": "Agent" }, "comments": "Absent in gnomAD, but present in PAGE below? 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From CCF cohort.", "contributionDate": { "date": "2018/12/10", "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": "CA000381/MONDO:0017623/003/ci/EV000000290", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/24345843", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA000381/MONDO:0017623/003/0/1633/1635", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA000381/MONDO:0017623/003/1/1634", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA000381/MONDO:0017623/003/0/1633", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA000381/MONDO:0017623/003/el/0/1702", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA000381/MONDO:0017623/003/ei/1/1703", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50012_EP15519033251287", "id": "CG-PCER-AGENT:CG_50012_EP15519033251287", "type": "Agent" }, "contributionDate": { "date": "2018/12/10", "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/CA000381/MONDO:0017623/003/el/0/1702/1704", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA000381/MONDO:0017623/003/ci/CA000381/MONDO:0017623/003.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50012_EP15519033251287", "id": "CG-PCER-AGENT:CG_50012_EP15519033251287", "type": "Agent" }, "contributionDate": { "date": "2018/12/10", "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": "CA000381/MONDO:0017623/003/ci/CA000381/MONDO:0017623/003.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA000381/MONDO:0017623/003/0/1702/1704", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA000381/MONDO:0017623/003/1/1703", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA000381/MONDO:0017623/003/0/1702", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA000381/MONDO:0017623/003/el/0/1780", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA000381/MONDO:0017623/003/ei/1/1781", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50012_EP15519033251287", "id": "CG-PCER-AGENT:CG_50012_EP15519033251287", "type": "Agent" }, "contributionDate": { "date": "2018/12/10", "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/CA000381/MONDO:0017623/003/el/0/1780/1782", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA000381/MONDO:0017623/003/ci/CA000381/MONDO:0017623/003.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50012_EP15519033251287", "id": "CG-PCER-AGENT:CG_50012_EP15519033251287", "type": "Agent" }, "comments": "H93Y in HGMD; could work up if needed to see if could help get this to PATH.", "contributionDate": { "date": "2018/12/10", "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": "CA000381/MONDO:0017623/003/ci/CA000381/MONDO:0017623/003.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA000381/MONDO:0017623/003/0/1780/1782", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA000381/MONDO:0017623/003/1/1781", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA000381/MONDO:0017623/003/0/1780", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA000381/MONDO:0017623/003/el/0/1591", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA000381/MONDO:0017623/003/ei/1/1592", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50012_EP15519033251287", "id": "CG-PCER-AGENT:CG_50012_EP15519033251287", "type": "Agent" }, "contributionDate": { "date": "2018/12/10", "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/CA000381/MONDO:0017623/003/el/0/1591/1593", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA000381/MONDO:0017623/003/ci/CA000381/MONDO:0017623/003.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50012_EP15519033251287", "id": "CG-PCER-AGENT:CG_50012_EP15519033251287", "type": "Agent" }, "contributionDate": { "date": "2018/12/10", "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": "CA000381/MONDO:0017623/003/ci/CA000381/MONDO:0017623/003.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA000381/MONDO:0017623/003/0/1591/1593", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA000381/MONDO:0017623/003/1/1592", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA000381/MONDO:0017623/003/0/1591", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA000381/MONDO:0017623/003/el/0/1606", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA000381/MONDO:0017623/003/ei/1/1607", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50012_EP15519033251287", "id": "CG-PCER-AGENT:CG_50012_EP15519033251287", "type": "Agent" }, "contributionDate": { "date": "2018/12/10", "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/CA000381/MONDO:0017623/003/el/0/1606/1608", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA000381/MONDO:0017623/003/ci/EV000000283", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50012_EP15519033251287", "id": "CG-PCER-AGENT:CG_50012_EP15519033251287", "type": "Agent" }, "comments": "Present in 4yo Cauc M with extreme macrocephaly (+8 SD), autism/DD, enlarged perivascular spaces. Peds score = 7, 1 PP4.", "contributionDate": { "date": "2018/12/10", "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": "CA000381/MONDO:0017623/003/ci/EV000000283", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/15805158", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA000381/MONDO:0017623/003/0/1606/1608", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA000381/MONDO:0017623/003/1/1607", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA000381/MONDO:0017623/003/0/1606", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA000381/MONDO:0017623/003", "metadata": { "created": "2024-09-27T19:54:23.575Z", "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": "Fri, 27 Sep 2024 19:54:23 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA6668-3", "id": "LN:LA6668-3", "label": "Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "902dd050-bb88-4ce6-b98d-dd80cbc3aa5e", "variant": { "@id": "https://reg.genome.network/allele/CA000381", "id": "CAR:CA000381", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000314.6:c.278A>G" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000314.6(PTEN):c.278A>G (p.His93Arg)" } ], "type": "CAR" } } ], "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-04-04T20:28:17.847Z" } }, "status": { "code": 200, "name": "OK" } }