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rs80357902

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 Normal
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357902(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091882
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357902
ebirs80357902
HLIrs80357902
Exacrs80357902
Varsomers80357902
Maprs80357902
PheGenIrs80357902
hapmaprs80357902
1000 genomesrs80357902
hgdprs80357902
ensemblrs80357902
gopubmedrs80357902
geneviewrs80357902
scholarrs80357902
googlers80357902
pharmgkbrs80357902
gwascentralrs80357902
openSNPrs80357902
23andMers80357902
23andMe allrs80357902
SNP Nexus

SNPshotrs80357902
SNPdbers80357902
MSV3drs80357902
GWAS Ctlgrs80357902
Max Magnitude6
rs80357902, also known as 3767insA, c.3648_3649insA and p.Leu1216_Ser1217?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357902(A;A)
Alt rs80357902(A;A)
Reference rs80357902(;)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41243900dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031116.5, RCV000048270.3, RCV000221757.1, RCV000225763.1,