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)

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	-

Insufficiently evaluated not reviewed

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

unknown

Allele frequency

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

Publications

Genomes

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

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_C05 from PGP sample 42408046 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_B03 from PGP sample 14427241 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_A04 from PGP sample 08188426 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_D02 from PGP sample 27316983 view
Nov 29 2012 Genome Importing Robot added CGI sample GS00253-DNA_H01_200_37 view
Nov 29 2012 Genome Importing Robot added CGI sample GS00253-DNA_C01_200_37 view
Nov 29 2012 Genome Importing Robot added CGI sample GS00253-DNA_A01_200_37 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_H01 from PGP sample 94797469 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B01 from PGP sample 86206034 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_H06 from PGP sample 91708424 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F06 from PGP sample 64191565 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_B07 from PGP sample 61499538 view
Mar 5 2012 Genome Importing Robot added CGI sample GS000005532 view
Jul 12 2011 Han Luu edited variant summary view
Jul 12 2011 Han Luu edited variant summary view
Jul 12 2011 Han Luu edited variant summary view
Jun 30 2011 Genome Importing Robot removed CGI sample GS00253-DNA_A01_200_37 view
Jun 30 2011 Genome Importing Robot removed CGI sample GS00253-DNA_C01_200_37 view
Jun 30 2011 Genome Importing Robot removed CGI sample GS00253-DNA_H01_200_37 view
Jun 23 2011 Genome Importing Robot removed [NA19129] view
Jun 23 2011 Genome Importing Robot removed [NA18956] view
Jun 23 2011 Genome Importing Robot removed [NA18555] view
Jun 23 2011 Genome Importing Robot removed [NA12156] view
Jun 22 2011 Genome Importing Robot removed J. Craig Venter view
Jun 22 2011 Genome Importing Robot removed [snp-3] view
Jun 22 2011 Genome Importing Robot removed [snp-2] view
Jun 22 2011 Genome Importing Robot added PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) view
Jun 22 2011 Genome Importing Robot removed Seong-Jin Kim view
Jun 9 2011 Han Luu edited variant summary view
Mar 29 2011 Genome Importing Robot removed hu3215A7 build 36 substitution variants view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Jr. view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Sr. view
Dec 6 2010 Genome Importing Robot added hu3215A7 build 36 substitution variants view
Dec 6 2010 Genome Importing Robot added hu728FFF build 36 substitution variants view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_H01_200_37 view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_C01_200_37 view
May 12 2010 Genome Importing Robot added Henry Louis Gates Jr. view
Feb 26 2010 Genome Importing Robot added [NA12156] view
Feb 17 2010 Genome Importing Robot added Henry Louis Gates Sr. view
Dec 27 2009 Genome Importing Robot added CGI sample GS00253-DNA_A01_200_37 view
Dec 27 2009 Genome Importing Robot added J. Craig Venter view
Dec 27 2009 Genome Importing Robot added [snp-3] view
Dec 27 2009 Genome Importing Robot added [NA19129] view
Dec 27 2009 Genome Importing Robot added [NA18956] view
Dec 27 2009 Genome Importing Robot added [NA18555] view
Dec 27 2009 Genome Importing Robot added [NA12878] view
Dec 27 2009 Genome Importing Robot added [snp-2] view
Dec 27 2009 Genome Importing Robot added Seong-Jin Kim view
Dec 27 2009 Genome Importing Robot added variant view

PCDH15 D440A - GET-Evidence