Variant · Indel
BRCA1 P968FS
CI-VAR-00003433Explore in graph →NP_009225.1:p.Pro968LeufsNM_007294.3:c.2902_2903insTCClinVar 91602 CIViC 477 rs398122670
Curated evidence
Evidence by cancer (2 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
- 24137399
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Malignant Breast Neoplasm1 | ||||||||
| BRCA1 P968FS | (predisposing) | Predisposing | C | Supports Predisposition | 4 | accepted | EID1123A 55-year-old non-Ashkenazi Spanish female diagnosed with breast cancer (at 51 years old) and ovarian cancer. Sequencing of BRCA1 and BRCA2 revealed a 2-base frameshift insertion in BRCA1 (labeled 302… (full text at CIViC) PMID 24137399 · Salgado et al., 2013 · Open in CIViC | civic |
| Malignant Ovarian Neoplasm1 | ||||||||
| BRCA1 P968FS | (predisposing) | Predisposing | C | Supports Predisposition | 4 | accepted | EID1124A 55-year-old non-Ashkenazi Spanish female diagnosed with breast cancer (at 51 years old) and ovarian cancer. Sequencing of BRCA1 and BRCA2 revealed a 2-base frameshift insertion in BRCA1 (labeled 302… (full text at CIViC) PMID 24137399 · | |
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 |
|---|---|---|---|---|---|---|---|---|
| 91602 | Pathogenic | reviewed by expert panel | 3 | Breast-ovarian cancer, familial, susceptibility to, 1; Hereditary breast ovarian cancer syndrome; Hereditary cancer-predisposing syndrome; Fanconi anemia, complementation group S | germline | 14 | Oct 18, 2016 | clinvar |