Log in
EnglishРусскийEnglish
VariantsStatisticsMethodsGuidelinesContactsAbout
HomeVariants

chr13:32954022 C>CA

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.9090dupA
Proteinp.T3030fs
Functionframeshift ins
Localizationexon
hg19chr13:32954022 C>CA
dbSNPrs397507419

Frequency in gnomAD

GenomeExome
MAX–0.0000668
AFR–0.0000668
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.00002766
SAS–0

ClinVar

IDPhenotypeEffect
RCV000031791.8Breast-ovarian cancer, familial 2Pathogenic
RCV000195406.7Hereditary breast and ovarian cancer syndromePathogenic
RCV000210094.1Breast-ovarian cancer, familial 1Pathogenic
RCV000585671.1Familial cancer of breastPathogenic
RCV000045711.7not providedPathogenic
RCV000130439.5Hereditary cancer-predisposing syndromePathogenic

HGMD

IDPhenotypeEffect
CI972563Breast cancerDM