BRCA1 E1038G - GET-Evidence

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

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Curation:
Currentness:

BRCA1 E1038G

(BRCA1 Glu1038Gly)


Short summary

 

Variant evidence
Computational 3

PolyPhen: Probably damaging 0.907
SIFT: Affect protein function 0.02
GVGD: GV 0.00; GD 97.85; Class C65
Variant Effect Predictor (Ensembl ):
SIFT=deleterious(0.04);
PolyPhen=probably_damaging(0.907);
Condel=deleterious(0.932)
Mutation Tasting Prediction: Polymorphism, P value: 0. 962069; no protein features affected.

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 @ chr17:41244435: 27.8% (2989/10758) in EVS
  • C @ chr17:38497960: 28.1% (36/128) in GET-Evidence
  • Frequency shown in summary reports: 27.8% (2989/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr17:41244435

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr17:41244435

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr17:41244435

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr17:41244435

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr17:41244435

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr17:41244435

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom C @ chr17:41244435

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr17:41244435

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom C @ chr17:41244435

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom C @ chr17:41244435

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr17:41244435

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr17:41244435

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr17:41244435

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr17:41244435

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom C @ chr17:41244435

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr17:41244435

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom C @ chr17:41244435

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr17:41244435

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr17:41244435

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom C @ chr17:41244435

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr17:41244435

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr17:41244435

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr17:38497961

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr17:38497961

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr17:38497961

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr17:38497961

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr17:38497961

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr17:38497961

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr17:38497961

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr17:38497961

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr17:38497961

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr17:38497961

 

GS19669 - var-GS19669-1100-36-ASM
hom C @ chr17:38497961

 

GS19670 - var-GS19670-1100-36-ASM
hom C @ chr17:38497961

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr17:38497961

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr17:38497961

 

Other external references
 

    dbSNP
  • rs16941
    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: 0.462 (possibly damaging)
    Web search results (107 hits -- see all)
  • BRCA1 expression and molecular alterations in familial breast ...
    BRCA1 protein expression level was evaluated using the monoclonal ... Interestingly, the presence of the E1038G polymorphism in BRCA1 exon 11 was significantly associated with ...
    www.ncbi.nlm.nih.gov/pubmed/19012246
  • Histol Histopathol, Vol 24, Mangia et al.
    BRCA1 protein expression level was evaluated using the monoclonal ... Interestingly, the presence of the E1038G polymorphism in BRCA1 exon 11 was significantly associated with ...
    www.hh.um.es/Abstracts/Vol_24/24_1/24_1_69.htm
  • DNA repair genotypes and associated phenotypes in breast cancer.
    The assay was studied in relation to associations with genotypes and haplotypes for BRCA1 and Rad51. ... with MBPC for the BRCA1 Q356R and E1038G genotypes or BRCA1 haplotypes. ...
    www.ashg.org/2008meeting/abstracts/fulltext/f20851.htm
  • Breast Cancer Research | Full text | Mutation screening of ...
    From these, the most frequent alterations were L771L, E1038G and K1183R, presented in 11, 10 and nine ... major breast and ovarian cancer susceptibility genes, BRCA1 and BRCA2. ...
    breast-cancer-research.com/content/7/S2/P1.02
  • Germline BRCA1 alterations in a population-based series of ...
    Over 500 alterations in the BRCA1 gene have been documented (7). Most of these are ... Frequency estimates of BRCA1 alterations in ovarian cancer ...
    hmg.oxfordjournals.org/cgi/content/full/8/5/889
  • Table 2
    BRCA1/2 mutations and polymorphisms in 4 Palestinian Arab women ... 11.7 BRCA1. 3232. 1038. A to G. E to G. E1038G. Missense-P. 8,9. 11.8 BRCA1. 3667. 1183. A to G. K to ...
    www.biomedcentral.com/1471-2407/7/14/table/T2
  • 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
  • Dutch BRCA1/2 Polymorphisms
    0,64. 0,34. C. 872. BRCA1. 11. 3232. 1038. 3232G/A (E1038G) Missense. 0,71 ... 67. 0,33. A. 162. BRCA1. 13. 4427. 1436. 4427T/C (S1436S) Synonymous. 0,67. 0,34. T ...
    www.humgen.nl/lab-devilee/UncVar/b12nlpol.htm
  • Mutation Analysis of the BRCA1 Gene in Malaysian Breast ...
    E1038G, K1183R, 4427T>C, S1613G and IVS8- 57delT) were identified in the samples tested. ... Germline mutations of BRCA1 in families are estimated. to increase the ...
    www.sma.org.sg/smj/4304/4304a5.pdf
  • classified Mutations
    BRCA1 3232 A>G (E1038G) BRCA1c.3113A>G (p.Glu1038Gly) PM. 59. BRCA1 4427 T>C (S1436S) ... BRCA1 3232 A>G (E1038G) BRCA1c.3113A>G (p.Glu1038Gly) PM. 61. BRCA1 IVS ...
    www.kconfab.org/Progress/Mutations.shtml

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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