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Family in spreadsheet does not have details on GC being DGC, will not count.", "contributionDate": { "date": "2020/6/3", "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": "CA280990/MONDO:0007648/007/ci/CA280990/MONDO:0007648/007.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA280990/MONDO:0007648/007/0/1633/1635", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA280990/MONDO:0007648/007/1/1634", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA280990/MONDO:0007648/007/0/1633", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA280990/MONDO:0007648/007/el/0/1702", "evidenceItem": [ { "@id": 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"agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50014_EP154895050032235", "id": "CG-PCER-AGENT:CG_50014_EP154895050032235", "type": "Agent" }, "contributionDate": { "date": "2020/6/3", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/007", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000216", "id": "SEPIO:0000216", "label": "Pathogenic Moderate" }, "id": "007", "label": "PM3", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA280990/MONDO:0007648/007/el/0/1717/1719", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA280990/MONDO:0007648/007/ci/CA280990/MONDO:0007648/007.002", "contribution": [ { "agent": { "@id": 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"https://erepo.genome.network/evrepo/api/interpretation/CA280990/MONDO:0007648/007/el/0/1780", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA280990/MONDO:0007648/007/ei/1/1781", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50014_EP154895050032235", "id": "CG-PCER-AGENT:CG_50014_EP154895050032235", "type": "Agent" }, "contributionDate": { "date": "2020/6/3", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/008", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000216", "id": "SEPIO:0000216", "label": "Pathogenic Moderate" }, "id": "008", "label": "PM5", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA280990/MONDO:0007648/007/el/0/1780/1782", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA280990/MONDO:0007648/007/ci/CA280990/MONDO:0007648/007.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50014_EP154895050032235", "id": "CG-PCER-AGENT:CG_50014_EP154895050032235", "type": "Agent" }, "comments": "**c.1008G>A (p.Gly336=) reported in ClinVar as LP. In this case rather that the amino acid change, this evidence applies to the affected nucleotide. Both variants are in last nucleotide of exon. c.1008G>A change has experimental data (in GC cells) showing splicing defect, absent from population and observed in an individual with diffuse gastric cancer. It is LP. As with G>T the effect is an insertion of 7bp leading to NMD.", "contributionDate": { "date": "2020/6/3", "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": "CA280990/MONDO:0007648/007/ci/CA280990/MONDO:0007648/007.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA280990/MONDO:0007648/007/0/1780/1782", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA280990/MONDO:0007648/007/1/1781", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA280990/MONDO:0007648/007/0/1780", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA280990/MONDO:0007648/007/el/0/1591", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA280990/MONDO:0007648/007/ei/1/1592", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50014_EP154895050032235", "id": "CG-PCER-AGENT:CG_50014_EP154895050032235", "type": "Agent" }, "contributionDate": { "date": "2020/6/3", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/009", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000216", "id": "SEPIO:0000216", "label": "Pathogenic Moderate" }, "id": "009", "label": "PM4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA280990/MONDO:0007648/007/el/0/1591/1593", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA280990/MONDO:0007648/007/ci/CA280990/MONDO:0007648/007.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50014_EP154895050032235", "id": "CG-PCER-AGENT:CG_50014_EP154895050032235", "type": "Agent" }, "contributionDate": { "date": "2020/6/3", "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": "CA280990/MONDO:0007648/007/ci/CA280990/MONDO:0007648/007.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA280990/MONDO:0007648/007/0/1591/1593", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA280990/MONDO:0007648/007/1/1592", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA280990/MONDO:0007648/007/0/1591", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA280990/MONDO:0007648/007", "metadata": { "created": "2024-09-27T20:57:59.885Z", "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 20:57:59 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26332-9", "id": "LN:LA26332-9", "label": "Likely Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "f17d1590-599b-49d7-a1e0-273ed56fef12", "variant": { "@id": "https://reg.genome.network/allele/CA280990", "id": "CAR:CA280990", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_004360.4:c.1008G>T" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_004360.4(CDH1):c.1008G>T (p.Glu336Asp)" } ], "type": "CAR" } } ], "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-14T03:47:19.557Z" } }, "status": { "code": 200, "name": "OK" } }