BRCA1 P871L - 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:

BRCA1 P871L

(BRCA1 Pro871Leu)


Short summary

While other mutations in BRCA1 are associated with a dramatically increased risk of breast and ovarian cancer, this variant appears to be a polymorphism.

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr17:41244936: 49.6% (5333/10758) in EVS
  • A @ chr17:38498461: 54.7% (70/128) in GET-Evidence
  • Frequency shown in summary reports: 49.6% (5333/10758)

Publications
 

Wenham RM, Schildkraut JM, McLean K, Calingaert B, Bentley RC, Marks J, Berchuck A. Polymorphisms in BRCA1 and BRCA2 and risk of epithelial ovarian cancer. Clin Cancer Res. 2003 Oct 1;9(12):4396-403. PubMed PMID: 14555511.

 

Tikhomirova OS, Grudinina NA, Golubkov VI, Mandel'shtam MIu, Vasil'ev BV. [Novel BRCA1 gene mutations in breast cancer patients from St. Petersburg]. Genetika. 2007 Sep;43(9):1263-8. Russian. PubMed PMID: 17990525.

 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr17:41244936

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr17:41244936

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr17:41244936

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr17:41244936

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr17:41244936

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr17:41244936

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom A @ chr17:41244936

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr17:41244936

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom A @ chr17:41244936

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom A @ chr17:41244936

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr17:41244936

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr17:41244936

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr17:41244936

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr17:41244936

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom A @ chr17:41244936

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr17:41244936

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom A @ chr17:41244936

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr17:41244936

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr17:41244936

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom A @ chr17:41244936

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr17:41244936

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom A @ chr17:41244936

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr17:38498462

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr17:38498462

 

GS18501 - var-GS18501-1100-36-ASM
hom A @ chr17:38498462

 

GS18502 - var-GS18502-1100-36-ASM
hom A @ chr17:38498462

 

GS18504 - var-GS18504-1100-36-ASM
hom A @ chr17:38498462

 

GS18505 - var-GS18505-1100-36-ASM
hom A @ chr17:38498462

 

GS18508 - var-GS18508-1100-36-ASM
hom A @ chr17:38498462

 

GS18517 - var-GS18517-1100-36-ASM
hom A @ chr17:38498462

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr17:38498462

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr17:38498462

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr17:38498462

 

GS19017 - var-GS19017-1100-36-ASM
hom A @ chr17:38498462

 

GS19020 - var-GS19020-1100-36-ASM
hom A @ chr17:38498462

 

GS19025 - var-GS19025-1100-36-ASM
hom A @ chr17:38498462

 

GS19026 - var-GS19026-1100-36-ASM
hom A @ chr17:38498462

 

GS19129 - var-GS19129-1100-36-ASM
hom A @ chr17:38498462

 

GS19238 - var-GS19238-1100-36-ASM
hom A @ chr17:38498462

 

GS19239 - var-GS19239-1100-36-ASM
hom A @ chr17:38498462

 

GS19240 - var-GS19240-1100-36-ASM
hom A @ chr17:38498462

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr17:38498462

 

GS19669 - var-GS19669-1100-36-ASM
hom A @ chr17:38498462

 

GS19670 - var-GS19670-1100-36-ASM
hom A @ chr17:38498462

 

GS19700 - var-GS19700-1100-36-ASM
hom A @ chr17:38498462

 

GS19701 - var-GS19701-1100-36-ASM
hom A @ chr17:38498462

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr17:38498462

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr17:38498462

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr17:38498462

 

GS21767 - var-GS21767-1100-36-ASM
hom A @ chr17:38498462

 

Other external references
 

    dbSNP
  • rs799917
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the BRCA1 gene
    BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer
    BRCA1 Hereditary Breast/Ovarian Cancer
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BRCA1
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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