NM_000424.4(KRT5):c.983A>T (p.Asp328Val) AND Epidermolysis bullosa simplex

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 21, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001352780.1

Allele description [Variation Report for NM_000424.4(KRT5):c.983A>T (p.Asp328Val)]

NM_000424.4(KRT5):c.983A>T (p.Asp328Val)

Gene:

KRT5:keratin 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

Preferred name:

NM_000424.4(KRT5):c.983A>T (p.Asp328Val)

HGVS:

NC_000012.12:g.52517699T>A
NG_008297.1:g.7761A>T
NM_000424.4:c.983A>TMANE SELECT
NP_000415.2:p.Asp328Val
NC_000012.11:g.52911483T>A
NM_000424.3:c.983A>T
P13647:p.Asp328Val

Protein change:

D328V

Links:

UniProtKB: P13647#VAR_010464; dbSNP: rs57142010

NCBI 1000 Genomes Browser:

rs57142010

Molecular consequence:

NM_000424.4:c.983A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Epidermolysis bullosa simplex
Synonyms:: Epidermolysis bullosa simplex, Weber-Cockayne type (subtype); Epidermolysis bullosa simplex, Dowling-Meara type (subtype); Epidermolysis bullosa simplex with mottled pigmentation (subtype)
Identifiers:: MONDO: MONDO:0017610; MedGen: C0079298; OMIM: PS131760

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unnamed protein product [Rattus sp.]
unnamed protein product [Rattus sp.]
gi|57786|emb|CAA34497.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001547410	Biomedical Innovation Departament, CIEMAT	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 21, 2017)	germline	research	PubMed (2) [See all records that cite these PMIDs] 21623745, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001547410

Biomedical Innovation Departament, CIEMAT

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 21, 2017)

germline

research

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.

García M, Santiago JL, Terrón A, Hernández-Martín A, Vicente A, Fortuny C, De Lucas R, López JC, Cuadrado-Corrales N, Holguín A, Illera N, Duarte B, Sánchez-Jimeno C, Llames S, García E, Ayuso C, Martínez-Santamaría L, Castiglia D, De Luca N, Torrelo A, Mechan D, Baty D, et al.

Br J Dermatol. 2011 Sep;165(3):683-92. doi: 10.1111/j.1365-2133.2011.10428.x.

PubMed [citation]

PMID:: 21623745

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Biomedical Innovation Departament, CIEMAT, SCV001547410.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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