NM_000526.5(KRT14):c.313_314del (p.Ala105fs) AND Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 1994
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000015732.30

Allele description [Variation Report for NM_000526.5(KRT14):c.313_314del (p.Ala105fs)]

NM_000526.5(KRT14):c.313_314del (p.Ala105fs)

Gene:

KRT14:keratin 14 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_000526.5(KRT14):c.313_314del (p.Ala105fs)

HGVS:

NC_000017.11:g.41586521_41586522del
NG_008624.1:g.5374_5375del
NM_000526.5:c.313_314delMANE SELECT
NP_000517.3:p.Ala105fs
NC_000017.10:g.39742773_39742774del
NM_000526.4:c.313_314delGC

Protein change:

A105fs

Links:

OMIM: 148066.0017; dbSNP: rs57278315

NCBI 1000 Genomes Browser:

rs57278315

Molecular consequence:

NM_000526.5:c.313_314del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
Synonyms:: Epidermolysis bullosa simplex, autosomal recessive
Identifiers:: MONDO: MONDO:0010976; MedGen: C3715082; Orphanet: 89838; OMIM: 601001

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000035997	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 1994)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000035997

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 1994)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A functional "knockout" of human keratin 14.

Rugg EL, McLean WH, Lane EB, Pitera R, McMillan JR, Dopping-Hepenstal PJ, Navsaria HA, Leigh IM, Eady RA.

Genes Dev. 1994 Nov 1;8(21):2563-73.

PubMed [citation]

PMID:: 7525407

Details of each submission

From OMIM, SCV000035997.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient, born of consanguineous parents, with a severe form of generalized epidermolysis bullosa (EBS1D; 601001), Rugg et al. (1994) identified a homozygous 2-bp deletion (313_314del) in the KRT14 gene, resulting in premature termination. The was no KRT14 expression in the skin and no intermediate filaments were seen in the basal cells of the epidermis. Each unaffected parent was heterozygous for the mutation.

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

Last Updated: Aug 5, 2023

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