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rs80357712

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AAATC) 6 BRCA1 variant considered pathogenic for breast cancer
(-;ATCAA) 6 BRCA1 variant considered pathogenic for breast cancer
(AAATC;AAATC) 0 common/normal
(ATCAA;ATCAA) 0 common in clinvar


Make rs80357712(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092803
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357712
dbSNP (old)rs80357712
ClinGenrs80357712
ebirs80357712
HLIrs80357712
Exacrs80357712
Varsomers80357712
Maprs80357712
PheGenIrs80357712
Biobankrs80357712
1000 genomesrs80357712
hgdprs80357712
ensemblrs80357712
gopubmedrs80357712
geneviewrs80357712
scholarrs80357712
googlers80357712
pharmgkbrs80357712
gwascentralrs80357712
openSNPrs80357712
23andMers80357712
23andMe allrs80357712
SNP Nexus

SNPshotrs80357712
SNPdbers80357712
MSV3drs80357712
GWAS Ctlgrs80357712
Merged fromRs397509003
Max Magnitude6
rs80357712, also known as 2843del5, c.2724_2728delAAATC and p.Glu908_Gln910?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk Rs80357712(ATCAA;ATCAA) rs80357712(-;-)
Alt Rs80357712(ATCAA;ATCAA) rs80357712(-;-)
Reference Rs80357712(AAATC;AAATC)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244818_41244822delTTGAT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047945.2, RCV000111923.3,