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rs80357605

From SNPedia

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


Make rs80357605(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092801
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357605
dbSNP (classic)rs80357605
ClinGenrs80357605
ebirs80357605
HLIrs80357605
Exacrs80357605
Gnomadrs80357605
Varsomers80357605
LitVarrs80357605
Maprs80357605
PheGenIrs80357605
Biobankrs80357605
1000 genomesrs80357605
hgdprs80357605
ensemblrs80357605
geneviewrs80357605
scholarrs80357605
googlers80357605
pharmgkbrs80357605
gwascentralrs80357605
openSNPrs80357605
23andMers80357605
SNPshotrs80357605
SNPdbers80357605
MSV3drs80357605
GWAS Ctlgrs80357605
Merged fromRs80357917
Max Magnitude6

rs80357605, also known as 2846del4, c.2727_2730delTCAA and p.Asn909_Gln910?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80357605(AATC;AATC) rs80357605(-;-)
Alt rs80357605(AATC;AATC) rs80357605(-;-)
Reference Rs80357605(TCAA;TCAA)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41244818_41244821delTTGA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047948.4, RCV000083188.8, RCV000162859.1,