Variant · Snv

BRCA2 D3095E

CI-VAR-00000473Explore in graph →NP_000050.2:p.Asp3095GluNM_000059.3:c.9285C>AClinVar 252859 CIViC 661 rs80359198

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.

civicCuratedShowing 1–2 of 2 evidence items across 2 cancer contexts 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
Malignant Breast Neoplasm1
BRCA2 D3095E	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID1679 49-year old woman diagnosed with breast cancer was assessed for BRCA2 mutations. Algorithms including Align-GVGD predicted pathogenicity, however PolyPhen predicted that this variant was benign. The a… (full text at CIViC) PMID 18951446 · Plon et al., 2008 · Open in CIViC	civic
Unmapped disease1unmapped disease
BRCA2 D3095E	(functional)	Functional	D	Supports Loss Of Function	3	submitted	EID9939 A homology directed DNA break repair (HDR) assay was used to infer the clinical relevance of missense mutations in the DNA-binding domain (DBD) of BRCA2. Mutant BRCA2 was expressed in a V-C8 hamster l… (full text at CIViC) PMID 23108138 ·

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
252859	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Breast-ovarian cancer, familial, susceptibility to, 2; Hereditary breast ovarian cancer syndrome; Hereditary cancer-predisposing syndrome; Familial cancer of breast	germline	5	Dec 21, 2023	clinvar