BRCA1 S1634G - GET-Evidence

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

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Curation:
Currentness:

BRCA1 S1634G

(BRCA1 Ser1634Gly)


Short summary

 

Variant evidence
Computational 1

PolyPhen2: Benign, score 0.153
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 55.27; Class C55
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.09);
PolyPhen=possibly_damaging(0.366);
Condel=deleterious(0.641)
Mutation Tasting Prediction: Polymorphism, P value: 0.793523; 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 @ chr17:41223094: 29.8% (3203/10758) in EVS
  • Frequency shown in summary reports: 29.8% (3203/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr17:41223094

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr17:41223094

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr17:41223094

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr17:41223094

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr17:41223094

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr17:41223094

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom C @ chr17:41223094

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr17:41223094

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom C @ chr17:41223094

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom C @ chr17:41223094

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr17:41223094

 

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants
het C @ chr17:38476620

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr17:41223094

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr17:41223094

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr17:41223094

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom C @ chr17:41223094

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr17:41223094

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom C @ chr17:41223094

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr17:41223094

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr17:41223094

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom C @ chr17:41223094

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr17:41223094

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr17:41223094

 

Other external references
 

    dbSNP
  • rs1799966
    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
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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