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rs80359444

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;ACATT) 6 BRCA2 variant considered pathogenic for breast cancer
(ACATT;ACATT) 0 common in clinvar
(ATTAC;ATTAC) 0 common in clinvar


Make rs80359444(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338753
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359444
ebirs80359444
HLIrs80359444
Exacrs80359444
Varsomers80359444
Maprs80359444
PheGenIrs80359444
hapmaprs80359444
1000 genomesrs80359444
hgdprs80359444
ensemblrs80359444
gopubmedrs80359444
geneviewrs80359444
scholarrs80359444
googlers80359444
pharmgkbrs80359444
gwascentralrs80359444
openSNPrs80359444
23andMers80359444
23andMe allrs80359444
SNP Nexus

SNPshotrs80359444
SNPdbers80359444
MSV3drs80359444
GWAS Ctlgrs80359444
Max Magnitude6
rs80359444, also known as 4626del5, c.4398_4402delACATT and p.Leu1466_Ser1468?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359444(;)
Alt rs80359444(;)
Reference rs80359444(ATTAC;ATTAC)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32912890_32912894delACATT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044404.4, RCV000083104.4, RCV000131078.2, RCV000160288.2,