BRCA1 K1183R - 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.

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Curation:
Currentness:

BRCA1 K1183R

(BRCA1 Lys1183Arg)


Short summary

 

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

  • C @ chr17:41244000: 29.5% (3170/10758) in EVS
  • C @ chr17:38497525: 30.5% (39/128) in GET-Evidence
  • Frequency shown in summary reports: 29.5% (3170/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr17:41244000

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr17:41244000

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr17:41244000

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr17:41244000

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr17:41244000

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr17:41244000

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom C @ chr17:41244000

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr17:41244000

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom C @ chr17:41244000

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom C @ chr17:41244000

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr17:41244000

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr17:41244000

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr17:41244000

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr17:41244000

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom C @ chr17:41244000

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr17:41244000

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom C @ chr17:41244000

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr17:41244000

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr17:41244000

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom C @ chr17:41244000

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr17:41244000

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr17:41244000

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr17:38497526

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr17:38497526

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr17:38497526

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr17:38497526

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr17:38497526

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr17:38497526

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr17:38497526

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr17:38497526

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr17:38497526

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr17:38497526

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr17:38497526

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr17:38497526

 

GS19669 - var-GS19669-1100-36-ASM
hom C @ chr17:38497526

 

GS19670 - var-GS19670-1100-36-ASM
hom C @ chr17:38497526

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr17:38497526

 

GS21767 - var-GS21767-1100-36-ASM
hom C @ chr17:38497526

 

Other external references
 

    dbSNP
  • rs16942
    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)
    Web search results (94 hits -- see all)
  • BRCA1 - SNPedia
    rs16942, known as K1183R. rs1799966, known as S1613G. rs41293463, known ... Among Ashkenazi Jews, the BRCA1 founder mutations for breast cancer are considered to be " ...
    www.snpedia.com/index.php?title=BRCA1
  • BioMed Central | Full text | Contribution of germline ...
    BRCA1 and BRCA2 mutations appear to account for a lower proportion of breast ... in this study included 4 common polymorphisms (BRCA1: K1183R in exon 11, S1613G ...
    www.biomedcentral.com/1471-2350/7/75
  • Counting potentially functional variants in BRCA1, BRCA2 and ...
    The two common (MAF > 10%) variants in BRCA1 (K1183R and S1613G) are in strong linkage disequilibrium (16) so most homozygotes carry at least four variant alleles. ...
    hmg.oxfordjournals.org/cgi/content/full/16/9/1051
  • Counting potentially functional variants in BRCA1, BRCA2 and ...
    Rare inactivating mutations in BRCA1, BRCA2, ATM, TP53 and CHEK2 confer relative risks for breast cancer ... BRCA1 (K1183R and S1613G) are in strong linkage disequili ...
    hmg.oxfordjournals.org/cgi/reprint/16/9/1051.pdf
  • Contribution of germline BRCA1 and BRCA2 sequence alterations ...
    Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in ... polymorphisms (K1183R, S1613G, and M1652I in BRCA1, and 7470A> ...
    tripdatabase.com/doc/598650-Contribution-of-germline-BRCA1-and-BRCA...
  • Contribution of germline BRCA1 and BRCA2 sequence alterations ...
    BRCA1 is a large protein of 1863 amino acids and BRCA2, with 3418 amino acids, is even ... included 4 common polymorphisms (BRCA1: K1183R in exon 11, S1613G ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1617095
  • Breast Cancer Research | Full text | Mutation screening of ...
    Germline mutations in BRCA1 and BRCA2 genes account for most of the hereditary ... frequent alterations were L771L, E1038G and K1183R, presented in 11, 10 and nine patients, ...
    breast-cancer-research.com/content/7/S2/P1.02
  • A Multi-Exonic BRCA1 Deletion Identified in Multiple Families ...
    A Multi-Exonic BRCA1 Deletion Identified in Multiple Families through ... identified a novel 26-kb deletion of BRCA1 exons 14 through 20 in patients from ...
    jmd.amjpathol.org/cgi/content/full/7/1/139
  • Table 2
    BRCA1/2 mutations and polymorphisms in 4 Palestinian Arab women ... 11.8 BRCA1. 3667. 1183. A to G. K to R. K1183R. Missense-P. 9,10,11. 13 BRCA1. 4427. 1436. T to C. S ...
    www.biomedcentral.com/1471-2407/7/14/table/T2
  • Dutch BRCA1/2 Polymorphisms
    BRCA1. 11. 2731. 871. 2731C/T (P871L) Missense. 0,64. 0,34. C. 872. BRCA1. 11 ... BRCA1. 11. 3667. 1183. 1183A/G (K1183R) Missense. 0,67. 0,33. A. 162. BRCA1. 13. 4427. 1436. 4427T/C ...
    www.humgen.nl/lab-devilee/UncVar/b12nlpol.htm

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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