Variant · Snv
BRCA1 H1862L
CI-VAR-00001909Explore in graph →NP_009225.1:p.His1862LeuNM_007294.4:c.5585A>TClinVar 55637 CIViC 3996 rs80357183
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 H1862L | (functional) | Functional | D | Supports Unaltered Function | 3 | submitted | EID10319High-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
- 2026-09-06
- 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 |
|---|---|---|---|---|---|---|---|---|
| 55637 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Hereditary breast ovarian cancer syndrome; Breast-ovarian cancer, familial, susceptibility to, 1; Hereditary cancer-predisposing syndrome; Malignant tumor of breast; Familial cancer of breast | germline | 9 | Jan 26, 2026 |