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chr13:32907408 CATCTT>C

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.1794_1798del
Proteinp.T598fs
Functionframeshift del
Localizationexon
hg19chr13:32907408 CATCTT>C
dbSNPrs276174813

Frequency in gnomAD

GenomeExome
MAX–0.00000917
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.00000917
SAS–0

ClinVar

IDPhenotypeEffect
RCV000031337.8Breast-ovarian cancer, familial 2Pathogenic
RCV000168232.5Hereditary breast and ovarian cancer syndromePathogenic
RCV000043887.6not providedPathogenic
RCV000129987.5Hereditary cancer-predisposing syndromePathogenic

HGMD

IDPhenotypeEffect
CD972072Breast cancerDM