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rs4986852

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 2 predisposition to breast cancer?
(A;G) possible predisposition to breast cancer
(C;C) 0
(G;G) 0 normal
ReferenceGRCh38 38.1/142
Chromosome17
Position43092412
GeneBRCA1
is asnp
is mentioned by
dbSNPrs4986852
ebirs4986852
HLIrs4986852
Exacrs4986852
Varsomers4986852
Maprs4986852
PheGenIrs4986852
hapmaprs4986852
1000 genomesrs4986852
hgdprs4986852
ensemblrs4986852
gopubmedrs4986852
geneviewrs4986852
scholarrs4986852
googlers4986852
pharmgkbrs4986852
gwascentralrs4986852
openSNPrs4986852
23andMers4986852
23andMe allrs4986852
SNP Nexus

SNPshotrs4986852
SNPdbers4986852
MSV3drs4986852
GWAS Ctlgrs4986852
GMAF0.01194
Max Magnitude2
? (A;A) (A;G) (G;G) 28
rs4986852 is a SNP causing an amino acid change in the breast cancer 1 BRCA1 gene at amino position 1040. The more common rs4986852(G) allele encodes Ser, while the rare rs4986852(A) allele encodes Asn; this variation is also known as Ser1040Asn or S1040N.

A well known study published in 1994 looked at 10 family pedigrees with breast cancer and ovarian cancer susceptibility, including 63 breast cancer patients, and discovered what they believed were seven putative disease-causing mutations. rs4986852 was one of these variants. [PMID 7894493]

Neighborrs1800709
Distance598
Neighborrs2227945
Distance299
OMIM113705
Desc
Variant0011
Relatedalso


ClinVar
Risk rs4986852(A;A)
Alt rs4986852(A;A)
Reference rs4986852(G;G)
Significance Other
Disease Breast-ovarian cancer not provided Hereditary breast and ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary breast and ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41244429C>T
CLNSRC Inc. Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation OMIM Allelic Variant
CLNACC RCV000019239.10, RCV000034739.3, RCV000048074.5, RCV000120293.3, RCV000128951.4,



[PMID 16111488OA-icon.png] Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.


[PMID 19644020OA-icon.png] Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.


GET Evidence
BRCA1-S1040N
aa_change Ser1040Asn
aa_change_short S1040N
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0171965
summary