Have questions? Visit https://www.reddit.com/r/SNPedia

rs28897759

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(A;T) 3.5 BRCA2 variant, possibly causal mutation but not definite
Make rs28897759(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32394803
GeneBRCA2
is asnp
is mentioned by
dbSNPrs28897759
ebirs28897759
HLIrs28897759
Exacrs28897759
Varsomers28897759
Maprs28897759
PheGenIrs28897759
hapmaprs28897759
1000 genomesrs28897759
hgdprs28897759
ensemblrs28897759
gopubmedrs28897759
geneviewrs28897759
scholarrs28897759
googlers28897759
pharmgkbrs28897759
gwascentralrs28897759
openSNPrs28897759
23andMers28897759
23andMe allrs28897759
SNP Nexus

SNPshotrs28897759
SNPdbers28897759
MSV3drs28897759
GWAS Ctlgrs28897759
Max Magnitude3.5

BRCA2 Asn3124Ile or N3124I mutation. The significance is unclear; it is not listed as a causal mutation for breast cancer in UMD, and there is conflicting evidence in ClinVar, with some labs indicating it is pathogenic but others reporting it is of unknown significance.

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249OA-icon.png]


[PMID 18724707] Computational and structural investigation of deleterious functional SNPs in breast cancer BRCA2 gene


ClinVar
Risk rs28897759(G,T;G,T)
Alt rs28897759(G,T;G,T)
Reference rs28897759(A;A)
Significance Other
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32968940A>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000031816.6, RCV000045802.3, RCV000130337.2, RCV000176516.2,