PCDH15 D440A - GET-Evidence

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

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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):
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 -


Insufficiently evaluated not reviewed

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

Inheritance pattern


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)



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




Other external references

  • rs4935502
  • 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
    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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