BRCA2 V2466A - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

BRCA2 V2466A

(BRCA2 Val2466Ala)


Short summary

The valine variant was associated with ovarian cancer in one patient, but was later reported as a benign polymorphism in the Yoruba population.

Variant evidence
Computational 1

PolyPhen2: Benign, score 0.000
SIFT: Tolerated 1.00
GVGD: GV 226.12; GD 0.00; Class C0
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.49);
PolyPhen=benign(0);
Condel=deleterious(0.512)
Mutation Tasting Prediction: Polymorphism, P value: 0.999358; protein features (might be) affected (aa 2350-2545 REGION Interaction with FANCD2 gets lost)

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated benign

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

dominant

Summary of published research, and additional commentary

 

Allele frequency

  • C @ chr13:32929387: 97.7% (10511/10754) in EVS
  • C @ chr13:31827386: 97.5% (119/122) in GET-Evidence
  • Frequency shown in summary reports: 97.7% (10511/10754)

Publications
 

Takahashi H, Chiu HC, Bandera CA, Behbakht K, Liu PC, Couch FJ, Weber BL, LiVolsi VA, Furusato M, Rebane BA, Cardonick A, Benjamin I, Morgan MA, King SA, Mikuta JJ, Rubin SC, Boyd J. Mutations of the BRCA2 gene in ovarian carcinomas. Cancer Res. 1996 Jun 15;56(12):2738-41. PubMed PMID: 8665505.

The valine residue is found in a single ovarian cancer patient.

Freedman ML, Penney KL, Stram DO, Le Marchand L, Hirschhorn JN, Kolonel LN, Altshuler D, Henderson BE, Haiman CA. Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort. Hum Mol Genet. 2004 Oct 15;13(20):2431-41. Epub 2004 Aug 18. PubMed PMID: 15317758.

The valine variant is found to a benign polymorphism in the Yoruba population.

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
hom C @ chr13:32929387

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom C @ chr13:32929387

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom C @ chr13:32929387

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom C @ chr13:32929387

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom C @ chr13:32929387

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom C @ chr13:32929387

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
hom C @ chr13:32929387

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom C @ chr13:32929387

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom C @ chr13:32929387

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom C @ chr13:32929387

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom C @ chr13:32929387

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom C @ chr13:32929387

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom C @ chr13:32929387

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom C @ chr13:32929387

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom C @ chr13:32929387

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom C @ chr13:32929387

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom C @ chr13:32929387

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chr13:32929387

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom C @ chr13:32929387

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom C @ chr13:32929387

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom C @ chr13:32929387

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom C @ chr13:32929387

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom C @ chr13:32929387

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom C @ chr13:32929387

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom C @ chr13:32929387

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom C @ chr13:32929387

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom C @ chr13:32929387

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom C @ chr13:32929387

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom C @ chr13:32929387

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom C @ chr13:32929387

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom C @ chr13:32929387

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom C @ chr13:32929387

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom C @ chr13:32929387

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom C @ chr13:32929387

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom C @ chr13:32929387

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom C @ chr13:32929387

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom C @ chr13:32929387

 

GS06985 - var-GS06985-1100-36-ASM
hom C @ chr13:31827387

 

GS06994 - var-GS06994-1100-36-ASM
hom C @ chr13:31827387

 

GS07357 - var-GS07357-1100-36-ASM
hom C @ chr13:31827387

 

GS10851 - var-GS10851-1100-36-ASM
hom C @ chr13:31827387

 

GS12004 - var-GS12004-1100-36-ASM
hom C @ chr13:31827387

 

GS18501 - var-GS18501-1100-36-ASM
hom C @ chr13:31827387

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr13:31827387

 

GS18504 - var-GS18504-1100-36-ASM
hom C @ chr13:31827387

 

GS18505 - var-GS18505-1100-36-ASM
hom C @ chr13:31827387

 

GS18508 - var-GS18508-1100-36-ASM
hom C @ chr13:31827387

 

GS18517 - var-GS18517-1100-36-ASM
hom C @ chr13:31827387

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr13:31827387

 

GS18537 - var-GS18537-1100-36-ASM
hom C @ chr13:31827387

 

GS18555 - var-GS18555-1100-36-ASM
hom C @ chr13:31827387

 

GS18558 - var-GS18558-1100-36-ASM
hom C @ chr13:31827387

 

GS18940 - var-GS18940-1100-36-ASM
hom C @ chr13:31827387

 

GS18942 - var-GS18942-1100-36-ASM
hom C @ chr13:31827387

 

GS18947 - var-GS18947-1100-36-ASM
hom C @ chr13:31827387

 

GS18956 - var-GS18956-1100-36-ASM
hom C @ chr13:31827387

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr13:31827387

 

GS19020 - var-GS19020-1100-36-ASM
hom C @ chr13:31827387

 

GS19026 - var-GS19026-1100-36-ASM
hom C @ chr13:31827387

 

GS19129 - var-GS19129-1100-36-ASM
hom C @ chr13:31827387

 

GS19239 - var-GS19239-1100-36-ASM
hom C @ chr13:31827387

 

GS19648 - var-GS19648-1100-36-ASM
hom C @ chr13:31827387

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chr13:31827387

 

GS19669 - var-GS19669-1100-36-ASM
hom C @ chr13:31827387

 

GS19670 - var-GS19670-1100-36-ASM
hom C @ chr13:31827387

 

GS19700 - var-GS19700-1100-36-ASM
hom C @ chr13:31827387

 

GS19703 - var-GS19703-1100-36-ASM
hom C @ chr13:31827387

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr13:31827387

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chr13:31827387

 

GS19834 - var-GS19834-1100-36-ASM
hom C @ chr13:31827387

 

GS20502 - var-GS20502-1100-36-ASM
hom C @ chr13:31827387

 

GS20509 - var-GS20509-1100-36-ASM
hom C @ chr13:31827387

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr13:31827387

 

Other external references
 

    dbSNP
  • rs169547
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the BRCA2 gene
    Prostate cancer
    Fanconi Anemia
    BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer
    BRCA2 Hereditary Breast/Ovarian Cancer
    BRCA2-Related Fanconi Anemia
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BRCA2

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

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