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chr13:32921023 G>GT

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.6998dupT
Proteinp.V2333fs
Functionframeshift ins
Localizationexon
hg19chr13:32921023 G>GT
dbSNPrs754611265

Frequency in gnomAD

GenomeExome
MAX–0.000009003
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.000009003
SAS–0

ClinVar

IDPhenotypeEffect
RCV000204770.2Hereditary breast and ovarian cancer syndromePathogenic
RCV000466284.1Familial cancer of breastPathogenic
RCV000579642.1Hereditary cancer-predisposing syndromePathogenic
RCV000627461.1not providedPathogenic
RCV000241320.2Breast-ovarian cancer, familial 2Pathogenic

HGMD

IDPhenotypeEffect
CI179321Breast cancerDM