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rs80359538

From SNPedia

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


Make rs80359538(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340154
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359538
ebirs80359538
HLIrs80359538
Exacrs80359538
Varsomers80359538
Maprs80359538
PheGenIrs80359538
hapmaprs80359538
1000 genomesrs80359538
hgdprs80359538
ensemblrs80359538
gopubmedrs80359538
geneviewrs80359538
scholarrs80359538
googlers80359538
pharmgkbrs80359538
gwascentralrs80359538
openSNPrs80359538
23andMers80359538
23andMe allrs80359538
SNP Nexus

SNPshotrs80359538
SNPdbers80359538
MSV3drs80359538
GWAS Ctlgrs80359538
Max Magnitude6
rs80359538, also known as 6027del4, c.5799_5802delCCAA and p.Asn1933_Gln1934?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359538(;)
Alt rs80359538(;)
Reference rs80359538(AACC;AACC)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32914291_32914294delCCAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044761.4, RCV000113485.4, RCV000131107.2, RCV000160298.2,