BRCA1 A1708E

CI-VAR-00000074Explore in graph →NP_009225.1:p.Ala1708GluNM_007294.4:c.5123C>AClinVar 55407 CIViC 3976 rs28897696

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.

civicCuratedShowing 1–1 of 1 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Unmapped disease1unmapped disease
BRCA1 A1708E	(functional)	Functional	D	Supports Loss Of Function	3	submitted	EID10291 High-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.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
55407	Pathogenic	reviewed by expert panel	3	Breast-ovarian cancer, familial, susceptibility to, 1; Hereditary cancer-predisposing syndrome; Hereditary breast ovarian cancer syndrome; Familial cancer of breast; Breast neoplasm; Breast carcinoma; Breast and/or ovarian cancer; BRCA1-related disorder; BRCA1-related cancer predisposition	germline	40	Aug 10, 2015