Rs144848

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Orientationminus
is asnp
is mentioned by
dbSNPrs144848
PheGenIrs144848
nextbiors144848
hapmaprs144848
1000 genomesrs144848
hgdprs144848
ensemblrs144848
gopubmedrs144848
geneviewrs144848
scholarrs144848
googlers144848
pharmgkbrs144848
gwascentralrs144848
openSNPrs144848
23andMers144848
23andMe allrs144848
SNP Nexus

SNPshotrs144848
SNPdbers144848
MSV3drs144848
GeneBRCA2
Chromosome13
Orientationminus
GMAF0.2401
Position32906729
ReferenceGRCh37 37.1/131
Max Magnitude2
Geno Mag Summary
(G;G) 2 1.3x increased risk for breast cancer
(G;T) 1.5 possible increased risk for breast cancer
(T;T) 0 normal
? (G;G) (G;T) (T;T) 28

This SNP, a variant in the BRCA2 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. [PMID 17341484]

For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.

For this particular SNP, the risk (minor) allele is (G), encoding the His; the SNP is also known as N372H or Asn372His.

In a separate study, rs144848(G;G) homozygotes were determined to have a 1.31x increased risk (CI: 1.07-1.61) for breast cancer greater risk compared to (T;T) genotypes. Interestingly, in normal females of all ages there is a significant deficiency of homozygotes compared with that expected from Hardy-Weinberg equilibrium, whereas in males there is an excess of homozygotes (with an estimated fitness of 0.82 in females and 1.38 in males). This implies that rs144848 affects fetal survival in a sex-dependent manner. [PMID 11062481]

Neighborrs766173
Distance249
[PMID 19902366OA-icon.png] Genetic variation in DNA repair genes and prostate cancer risk: results from a population-based study
OMIM600185
Desc
Variant0013
Relatedalso


ClinVar
Risk rs144848(G;G)
Alt rs144848(G;G)
Reference rs144848(T;T)
Significance 255
Disease Breast-ovarian cancer, not provided
ClinVar info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2, not provided
Reversed 1
CLNHGVS NC_000013.10:g.32906729A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009916.1, RCV000034427.1



[PMID 12466288OA-icon.png] Haplotype and linkage disequilibrium architecture for human cancer-associated genes.


[PMID 15113441OA-icon.png] Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.


[PMID 16857995OA-icon.png] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.


[PMID 17428325OA-icon.png] Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk.


[PMID 18086758OA-icon.png] Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer: results from two Australian studies and an additional validation set.


[PMID 18431743OA-icon.png] Consortium analysis of 7 candidate SNPs for ovarian cancer.


[PMID 18547414OA-icon.png] Genotyping panel for assessing response to cancer chemotherapy.


[PMID 18579371OA-icon.png] Genetic polymorphisms in double-strand break DNA repair genes associated with risk of oral premalignant lesions.


[PMID 19138047OA-icon.png] Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.


[PMID 19276285OA-icon.png] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.


[PMID 19500380OA-icon.png] LD2SNPing: linkage disequilibrium plotter and RFLP enzyme mining for tag SNPs.


[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.


[PMID 20003265OA-icon.png] Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast.


[PMID 22430443OA-icon.png] Occupational solvent exposure, genetic variation of DNA repair genes, and the risk of non-Hodgkin's lymphoma.


GET Evidence
BRCA2-N372H
aa_change Asn372His
aa_change_short N372H
impact pathogenic
qualified_impact Low clinical importance, Uncertain pathogenic
overall_frequency 0.23656
summary This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.



[PMID 23964347OA-icon.png] Assessment of the Prognostic Value of Two Common Variants of BRCA1 and BRCA2 Genes in Ovarian Cancer Patients Treated with Cisplatin and Paclitaxel: A Gynecologic Oncology Group Study