Variant · Snv
BRCA1 Q1467*
CI-VAR-00003495Explore in graph →NP_009225.1:p.Gln1467TerNM_007294.3:c.4399C>TClinVar 55191 CIViC 1246 rs397509171
Curated evidence
Evidence by cancer (1 items)
Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 27908594
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Malignant Ovarian Neoplasm1 | ||||||||
| BRCA1 Q1467* | Rucaparib | Predictive | C | Supports Sensitivity Response | — | accepted | EID2878In a phase 2 study of 206 recurrent, platinum-sensitive, high-grade ovarian cancer patients, patients with germline or somatic BRCA1 or BRCA2 mutation (n=40) were associated with improved progression … (full text at CIViC) PMID 27908594 · Swisher et al., 2017 · Open in CIViC | civic |
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 55191 | Pathogenic | reviewed by expert panel | 3 | Breast-ovarian cancer, familial, susceptibility to, 1; Hereditary breast ovarian cancer syndrome; Breast and/or ovarian cancer; Hereditary cancer-predisposing syndrome | germline | 8 | Oct 18, 2016 | clinvar |