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rs80359264

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
(A;A) 0 common in clinvar


Make rs80359264(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332616
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359264
ebirs80359264
HLIrs80359264
Exacrs80359264
Varsomers80359264
Maprs80359264
PheGenIrs80359264
hapmaprs80359264
1000 genomesrs80359264
hgdprs80359264
ensemblrs80359264
gopubmedrs80359264
geneviewrs80359264
scholarrs80359264
googlers80359264
pharmgkbrs80359264
gwascentralrs80359264
openSNPrs80359264
23andMers80359264
23andMe allrs80359264
SNP Nexus

SNPshotrs80359264
SNPdbers80359264
MSV3drs80359264
GWAS Ctlgrs80359264
Max Magnitude6
rs80359264, also known as 1366delA, c.1138_1138delA and p.Ser380Valfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359264(;)
Alt rs80359264(;)
Reference rs80359264(A;A)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32906753delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043744.3, RCV000077251.3, RCV000132193.2,