KRT5 D197E - 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:

KRT5 D197E

(KRT5 Asp197Glu)


Short summary

 

Variant evidence
Computational 1

PolyPhen2: Benign, score 0.004
SIFT: Affect protein function 0.00
GVGD: Class C35

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

  • T @ chr12:52912909: 7.5% (806/10750) in EVS
  • T @ chr12:51199175: 23.7% (28/118) in GET-Evidence
  • Frequency shown in summary reports: 7.5% (806/10750)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr12:52912909

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr12:52912909

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr12:52912909

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr12:52912909

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr12:52912909

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr12:52912909

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr12:52912909

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr12:52912909

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr12:52912909

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr12:52912909

 

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr12:52912909

 

huC30901

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom T @ chr12:52912909

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr12:52912909

 

GS06994 - var-GS06994-1100-36-ASM
hom T @ chr12:51199176

 

GS12004 - var-GS12004-1100-36-ASM
hom T @ chr12:51199176

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr12:51199176

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr12:51199176

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr12:51199176

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr12:51199176

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr12:51199176

 

GS19017 - var-GS19017-1100-36-ASM
hom T @ chr12:51199176

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr12:51199176

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr12:51199176

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr12:51199176

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr12:51199176

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr12:51199176

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr12:51199176

 

Other external references
 

    dbSNP
  • rs641615
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the KRT5 gene
    Epidermolysis Bullosa Simplex
    Epidermolysis Bullosa Simplex with Mottled Pigmentation
    Epidermolysis Bullosa Simplex, Dowling-Meara Type
    Epidermolysis Bullosa Simplex, Koebner Type
    Epidermolysis Bullosa Simplex, Weber-Cockayne Type
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT5
    PolyPhen-2
  • Score: 0.005 (benign)
    Web search results (3 hits -- see all)
  • European Journal of Dermatology
    The frequency of 2 sequence polymorphisms in exon 1 of KRT5, 591CA (D197E) and 594CA (T198T), was determined by sequence analysis. Results ...
    john-libbey-eurotext.fr/en/revues/...?type=text.html
  • Journal of Investigative Dermatology - Epidermolysis Bullosa ...
    Of note, KRT5 haploinsufficiency has been shown to underlie Dowling–Degos disease ... A237T/p.R79S; c.C591A/p.D197E; c.A1159C/p.T387S) sequence alterations. ...
    www.nature.com/jid/journal/v126/n7/full/5700296a.html

Other in silico analyses
 

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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