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rs80357438

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 6 BRCA1 variant considered likely to be pathogenic for ovarian cancer (by ClinVar)
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer (by most ClinVar submitters)
(T;T) 0 common in clinvar


Make rs80357438(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43124032
GeneBRCA1, NBR2
is asnp
is mentioned by
dbSNPrs80357438
ClinGenrs80357438
ebirs80357438
HLIrs80357438
Exacrs80357438
Varsomers80357438
Maprs80357438
PheGenIrs80357438
hapmaprs80357438
1000 genomesrs80357438
hgdprs80357438
ensemblrs80357438
gopubmedrs80357438
geneviewrs80357438
scholarrs80357438
googlers80357438
pharmgkbrs80357438
gwascentralrs80357438
openSNPrs80357438
23andMers80357438
23andMe allrs80357438
SNP Nexus

SNPshotrs80357438
SNPdbers80357438
MSV3drs80357438
GWAS Ctlgrs80357438
Max Magnitude6

aka c.65T>C, p.Leu22Ser, L22S

This variant is classified by the majority of sources in ClinVar as being pathogenic for breast cancer, however, other sources feel that it is more appropriate to classify it as a variant of unknown significance (VUS) for the time being. Basically, while predicted to be a pathogenic mutation, because it hasn't been seen in enough patients the jury is still out. One of the private (commercial) databases also classifies it as a VUS according to [PMID 28408614].

Note that another variant, c.65T>A or p.Leu22Ter, also exists for this SNP; it is considered likely to be pathogenic for ovarian cancer according to ClinVar.

23andMe name for the T>C variant: i5010342


ClinVar
Risk rs80357438(A;A) rs80357438(C;C)
Alt rs80357438(A;A) rs80357438(C;C)
Reference Rs80357438(T;T)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Ovarian cancer
Variation info
Gene NBR2 BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided Ovarian cancer
Reversed 1
HGVS NC_000017.10:g.41276049A>G; NC_000017.10:g.41276049A>T
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation UniProtKB (protein)
CLNACC RCV000049081.3, RCV000083224.6, RCV000162704.2, RCV000479212.1, RCV000239088.1,