{{Rsnum
|rsid=144848
|Gene=BRCA2
|Chromosome=13
|position=32332592
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=C
|GMAF=0.2401
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=BRCA2
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 8.0 | 48.7 | 43.4
| HCB | 6.6 | 37.5 | 55.9
| JPT | 7.1 | 36.3 | 56.6
| YRI | 0.7 | 16.3 | 83.0
| ASW | 0.0 | 12.3 | 87.7
| CHB | 6.6 | 37.5 | 55.9
| CHD | 4.6 | 52.3 | 43.1
| GIH | 6.9 | 45.5 | 47.5
| LWK | 0.0 | 20.0 | 80.0
| MEX | 3.5 | 54.4 | 42.1
| MKK | 4.5 | 38.5 | 57.1
| TSI | 5.9 | 41.2 | 52.9
| HapMapRevision=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}}

* See also [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600185&a=600185_AllelicVariant0013 Omim 113705.0013]

{{ neighbor
| rsid = 766173
| distance = 249
}}

{{PMID Auto
|PMID=19902366
|Title=Genetic variation in DNA repair genes and prostate cancer risk: results from a population-based study
|OA=1
}}

{{omim
|id=600185
|rsnum=144848
|variant=0013
}}

{{ClinVar
|rsid=144848
|Reversed=1
|FwdREF=T
|FwdALT=G
|REF=A
|ALT=C
|RSPOS=32906729
|CHROM=13
|GMAF=0.2404
|dbSNPBuildID=83
|SSR=0
|SAO=1
|VP=0x05016800000017051f110101
|GENEINFO=BRCA2:675
|GENE_NAME=BRCA2
|GENE_ID=675
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000013.10:g.32906729A>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=600185.0013
|CLNSIG=255
|CLNCUI=C2675520
|CLNDBN=Breast-ovarian cancer, familial 2; not provided
|Disease=Breast-ovarian cancer; not provided
|CLNACC=RCV000009916.1; RCV000034427.1
|Tags=RV;PM;PMC;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.7599; 0.2401
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1247:C2675520:612555:145
|COMMON=1
}}

{{PMID Auto
|PMID=12466288
|Title=Haplotype and linkage disequilibrium architecture for human cancer-associated genes.
|OA=1
}}

{{PMID Auto
|PMID=15113441
|Title=Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.
|OA=1
}}

{{PMID Auto
|PMID=16857995
|Title=Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.
|OA=1
}}

{{PMID Auto
|PMID=17428325
|Title=Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=18086758
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=18431743
|Title=Consortium analysis of 7 candidate SNPs for ovarian cancer.
|OA=1
}}

{{PMID Auto
|PMID=18547414
|Title=Genotyping panel for assessing response to cancer chemotherapy.
|OA=1
}}

{{PMID Auto
|PMID=18579371
|Title=Genetic polymorphisms in double-strand break DNA repair genes associated with risk of oral premalignant lesions.
|OA=1
}}

{{PMID Auto
|PMID=19138047
|Title=Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.
|OA=1
}}

{{PMID Auto
|PMID=19276285
|Title=Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=19500380
|Title=LD2SNPing: linkage disequilibrium plotter and RFLP enzyme mining for tag SNPs.
|OA=1
}}

{{PMID Auto
|PMID=19644020
|Title=Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.
|OA=1
}}

{{PMID Auto
|PMID=20003265
|Title=Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast.
|OA=1
}}

{{PMID Auto
|PMID=22430443
|Title=Occupational solvent exposure, genetic variation of DNA repair genes, and the risk of non-Hodgkin's lymphoma.
|OA=1
}}

{{GET Evidence
|gene=BRCA2
|aa_change=Asn372His
|aa_change_short=N372H
|impact=pathogenic
|qualified_impact=Low clinical importance, Uncertain pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs144848
|overall_frequency_n=2517
|overall_frequency_d=10640
|overall_frequency=0.23656
|n_genomes=22
|n_genomes_annotated=0
|n_haplomes=22
|n_articles=2
|n_articles_annotated=1
|qualityscore_in_silico=0
|qualitycomment_in_silico=Y
|qualityscore_case_control=2
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualityscore_severity=4
|qualitycomment_severity=Y
|qualityscore_treatability=3
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=4
|webscore=N
|n_web_uneval=10
|variant_evidence=0
|clinical_importance=0
|summary_short=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 Auto
|PMID=23964347
|Title=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
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}