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rs80359352

From SNPedia

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


Make rs80359352(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337163
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359352
ebirs80359352
HLIrs80359352
Exacrs80359352
Varsomers80359352
Maprs80359352
PheGenIrs80359352
hapmaprs80359352
1000 genomesrs80359352
hgdprs80359352
ensemblrs80359352
gopubmedrs80359352
geneviewrs80359352
scholarrs80359352
googlers80359352
pharmgkbrs80359352
gwascentralrs80359352
openSNPrs80359352
23andMers80359352
23andMe allrs80359352
SNP Nexus

SNPshotrs80359352
SNPdbers80359352
MSV3drs80359352
GWAS Ctlgrs80359352
Max Magnitude6
rs80359352, also known as 3036del4, c.2808_2811delACAA and p.Ala938ProfsX21, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359352(;)
Alt rs80359352(;)
Reference rs80359352(AAAC;AAAC)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Breast-ovarian cancer not specified
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Breast-ovarian cancer, familial 1 not specified
Reversed 0
HGVS NC_000013.10:g.32911300_32911303delACAA
CLNSRC Breast Cancer Information Core (BRCA2) Inc. OMIM Allelic Variant
CLNACC RCV000009907.7, RCV000044064.8, RCV000131102.3, RCV000160273.2, RCV000210161.1, RCV000238794.1,