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rs80357783

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 Normal
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
(-;AG) 6 BRCA1 variant considered pathogenic for breast cancer
(AG;AG) 0 Normal
ReferenceGRCh38 38.1/141
Chromosome17
Position43124030
GeneBRCA1, NBR2
is asnp
is mentioned by
dbSNPrs80357783
dbSNP (old)rs80357783
ClinGenrs80357783
ebirs80357783
HLIrs80357783
Exacrs80357783
Gnomadrs80357783
Varsomers80357783
Maprs80357783
PheGenIrs80357783
Biobankrs80357783
1000 genomesrs80357783
hgdprs80357783
ensemblrs80357783
gopubmedrs80357783
geneviewrs80357783
scholarrs80357783
googlers80357783
pharmgkbrs80357783
gwascentralrs80357783
openSNPrs80357783
23andMers80357783
23andMe allrs80357783
SNP Nexus

SNPshotrs80357783
SNPdbers80357783
MSV3drs80357783
GWAS Ctlgrs80357783
Merged fromRs77944974, Rs80357713
Max Magnitude6
rs80357783, also known as c.68_69delAG (p.Glu23Valfs), is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar. See discussion at rs796856605, since this is another name for this (185delAG) mutation.
ClinVar
Risk rs80357783(A;A) rs80357783(C;C) Rs80357783(AG;AG)
Alt rs80357783(A;A) rs80357783(C;C) Rs80357783(AG;AG)
Reference Rs80357783(-;-)
Significance Other
Disease Breast-ovarian cancer Pancreatic cancer 4 Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome not provided Neoplasm of breast
Variation info
Gene NBR2 BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Pancreatic cancer 4 Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome not provided Neoplasm of breast
Reversed 1
HGVS NC_000017.10:g.41276047_41276048delCT; NC_000017.10:g.41276048dupT
CLNSRC Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC RCV000019230.18, RCV000019231.3, RCV000034761.9, RCV000056295.6, RCV000131394.4, RCV000213650.3, RCV000031272.7, RCV000049087.4, RCV000163427.2, RCV000240681.1, RCV000478017.1,