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rs80357713

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common/normal
(-;AG) 3 rare BRCA1 variant, of unclear pathogenicity
Make rs80357713(AG;AG)
ReferenceGRCh38 38.1/142
Chromosome17
Position43124030
GeneBRCA1, NBR2
is asnp
is mentioned by
dbSNPrs80357713
ebirs80357713
HLIrs80357713
Exacrs80357713
Varsomers80357713
Maprs80357713
PheGenIrs80357713
hapmaprs80357713
1000 genomesrs80357713
hgdprs80357713
ensemblrs80357713
gopubmedrs80357713
geneviewrs80357713
scholarrs80357713
googlers80357713
pharmgkbrs80357713
gwascentralrs80357713
openSNPrs80357713
23andMers80357713
23andMe allrs80357713
SNP Nexus

SNPshotrs80357713
SNPdbers80357713
MSV3drs80357713
GWAS Ctlgrs80357713
Merged fromRs77944974
Max Magnitude3

rs80357713, also known as c.66_67insAG, represents a 2 nucleotide insertion variant in between GRCh37 position 17:41276047-8.

Technically, at the sequence level this changes GGACACTCTAA to GGACACCctTAA, where the lower case "ct" indicates the variant insertion.

The pathogenicity of this rare mutation is not reported in ClinVar and dbSNP.

In the BIC database, rs80357713 appears to be incorrectly reported as being the "185delAG" mutation, which is actually correctly represented as either rs386833395 or rs796856605.


ClinVar
Risk rs80357713(AG;AG)
Alt rs80357713(AG;AG)
Reference rs80357713(AG;AG)
Significance Other
Disease Breast-ovarian cancer Pancreatic cancer 4 BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene NBR2 BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Pancreatic cancer 4 BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.11:g.43124030_43124031delCT
CLNSRC Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC RCV000019230.10, RCV000019231.1, RCV000034761.3, RCV000056295.6, RCV000131394.2,