PCDH15 D440A - 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:

PCDH15 D440A

(PCDH15 Asp440Ala)


Short summary

 

Variant evidence
Computational 5

PolyPhen2: Possibly damaging 0.505
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 125.75; Class C65
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.06);
PolyPhen=possibly_damaging(0.832);
Condel=deleterious(0.883)
Mutation Tasting Prediction: Polymorphism, P value: 0.244830; protein features (might be) affected (aa 27-1376 TOPO_DOM Extracellular (potential) gets lost; aa 396-509 DOMAIN Cadherin 4 gets lost)

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

  • G @ chr10:55955444: 13.1% (1413/10758) in EVS
  • Frequency shown in summary reports: 13.1% (1413/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr10:55955444

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr10:55955444

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom G @ chr10:55955444

 

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het G @ chr10:55955444

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr10:55955444

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het G @ chr10:55955444

 

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants
hom G @ chr10:55625450

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr10:55955444

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom G @ chr10:55955444

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr10:55955444

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr10:55955444

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr10:55955444

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr10:55955444

 

NA12878

 

Other external references
 

    dbSNP
  • rs4935502
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the PCDH15 gene
    Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    Usher Syndrome Type 1
    DFNB23 Nonsyndromic Hearing Loss and Deafness
    Usher Syndrome Type 1F
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PCDH15
    Web search results (3 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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