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chr17:41244865 GTTTC>G

Annotations

GeneBRCA1
TranscriptNM_007294.4
cDNAc.2679_2682del
Proteinp.Lys893Asnfs*106
Functionframeshift
Localizationexon
hg19chr17:41244865 GTTTC>G
dbSNPrs80357596

Synonyms

TranscriptcDNAProtein
NM_007297.3c.2538_2541delp.K846fs
NM_007300.4c.2679_2682delp.Lys893Asnfs*106
NM_007298.3c.788-1820_788-1817delGAAA
NM_007299.3c.788-1820_788-1817delGAAA
NR_027676.1n.2815_2818delGAAA

Frequency in gnomAD

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

ClinVar

IDPhenotypeEffect
RCV000131877.6Hereditary cancer-predisposing syndromePathogenic
RCV000255129.5not providedPathogenic
RCV000031062.10Breast-ovarian cancerPathogenic
RCV000047925.11Hereditary breast and ovarian cancer syndromePathogenic
RCV001001190.1not specifiedPathogenic

HGMD

IDPhenotypeEffect
CD982490Breast cancerDM