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chr13:32972852 C>T

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.10202C>T
Proteinp.T3401M
Functionmissense
Localizationexon
hg19chr13:32972852 C>T

Frequency in gnomAD

GenomeExome
MAX0.000066680.0000654
AFR00.0000654
AMR00.00002985
ASJ00
EAS00
FIN00
NFE0.000066680.00002694
SAS0

ClinVar

IDPhenotypeEffect
RCV000043725.6Hereditary breast and ovarian cancer syndromeLikely benign
RCV000435257.2not specifiedConflicting interpretations of pathogenicity
RCV000132503.4Hereditary cancer-predisposing syndromeVUS
RCV000077247.5Breast-ovarian cancer, familial 2Conflicting interpretations of pathogenicity

HGMD

IDPhenotypeEffect
HM971469Breast cancerDM