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rs80359324

From SNPedia

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


Make rs80359324(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336458
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359324
ebirs80359324
HLIrs80359324
Exacrs80359324
Varsomers80359324
Maprs80359324
PheGenIrs80359324
hapmaprs80359324
1000 genomesrs80359324
hgdprs80359324
ensemblrs80359324
gopubmedrs80359324
geneviewrs80359324
scholarrs80359324
googlers80359324
pharmgkbrs80359324
gwascentralrs80359324
openSNPrs80359324
23andMers80359324
23andMe allrs80359324
SNP Nexus

SNPshotrs80359324
SNPdbers80359324
MSV3drs80359324
GWAS Ctlgrs80359324
Max Magnitude6
rs80359324, also known as 2331del4, c.2103_2106delTATT and p.Phe701_Ile702?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359324(;)
Alt rs80359324(;)
Reference rs80359324(TTAT;TTAT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32910595_32910598delTATT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043945.2, RCV000113014.1, RCV000214908.1,