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chr13:32914137 C>A

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.5645C>A
Proteinp.S1882X
Functionstop gain
Localizationexon
hg19chr13:32914137 C>A
dbSNPrs80358785

Frequency in gnomAD

GenomeExome
MAX–0.00005813
AFR–0
AMR–0
ASJ–0
EAS–0.00005813
FIN–0
NFE–0.00001803
SAS–0

ClinVar

IDPhenotypeEffect
RCV000585709.1Familial cancer of breastPathogenic
RCV000167830.6Hereditary breast and ovarian cancer syndromePathogenic
RCV000240722.1Neoplasm of the breastPathogenic
RCV000131114.5Hereditary cancer-predisposing syndromePathogenic
RCV000044705.7not providedPathogenic
RCV000031565.10Breast-ovarian cancer, familial 2Pathogenic

HGMD

IDPhenotypeEffect
CM980241Breast cancerDM