Variant · Snv
BRCA1 M1628T
CI-VAR-00002561Explore in graph →NP_009225.1:p.Met1628ThrNM_007294.4:c.4883T>CClinVar 41828 CIViC 3966 rs4986854
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
- 23867111
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Unmapped disease1unmapped disease | ||||||||
| BRCA1 M1628T | (functional) | Functional | D | Supports Unaltered Function | 3 | submitted | EID10283High-throughput functional assays were used to classify BRCA1 missense mutations with unknown effects. A complementation assay was developed using BRCA1-null conditional knockout mouse embryonic stem … (full text at CIViC) PMID 23867111 · Bouwman et al., 2013 · 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
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 41828 | Benign | reviewed by expert panel | 3 | Breast-ovarian cancer, familial, susceptibility to, 1; Breast neoplasm; Hereditary cancer-predisposing syndrome; Hereditary breast ovarian cancer syndrome; Malignant tumor of breast; Pancreatic cancer, susceptibility to, 4; Familial cancer of breast; Fanconi anemia, complementation group S; BRCA1-related disorder | germline | 33 |