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NM_000424.4(KRT5):c.1635del (p.Leu546fs) AND Epidermolysis bullosa simplex 2C, localized

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 3, 2022
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:
RCV002284185.1

Allele description [Variation Report for NM_000424.4(KRT5):c.1635del (p.Leu546fs)]

NM_000424.4(KRT5):c.1635del (p.Leu546fs)

Gene:
KRT5:keratin 5 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_000424.4(KRT5):c.1635del (p.Leu546fs)
HGVS:
  • NC_000012.12:g.52515082del
  • NG_008297.1:g.10380del
  • NM_000424.4:c.1635delMANE SELECT
  • NP_000415.2:p.Leu546fs
  • NC_000012.11:g.52908866del
  • NM_000424.3:c.1635_1635delG
  • NM_000424.3:c.1635delG
Protein change:
L546fs
Links:
OMIM: 148040.0013; dbSNP: rs57187183
NCBI 1000 Genomes Browser:
rs57187183
Molecular consequence:
  • NM_000424.4:c.1635del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Epidermolysis bullosa simplex 2C, localized (EBS2C)
Synonyms:
Epidermolysis bullosa simplex 2C, Weber-Cockayne type
Identifiers:
MONDO: MONDO:0030527; MedGen: C5562011; OMIM: 619594

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036022OMIM
no assertion criteria provided
Pathogenic
(Feb 3, 2022) 		germlineliterature only

Sprecher, E., Yosipovitch, G., Bergman, R., Ciubutaro, D., Indelman, M., Pfendner, E., Goh, L. C., Miller, C. J., Uitto, J., Richard, G. Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the V2 tail domains of keratin 1 and keratin 5. J. Invest. Derm. 120: 623-626, 2003.

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From OMIM, SCV000036022.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided

Description

Sprecher et al. (2003) reported a 25-year-old male of Ashkenazi Jewish origin whose initial clinical presentation, structural abnormalities of lesional skin, and course of disease were consistent with a very mild localized form of EBS (EBS2C; 619594). DNA sequence analysis of the complete coding sequence of the K5 gene disclosed in exon 9 a heterozygous guanine deletion at position 1635 downstream of the ATG start codon of K5 (1635delG). This mutation introduced a frameshift and delayed stop codon 80 amino acids downstream of the mutation site. The deletion was predicted to lead to the translation of an aberrant K5 protein carrying an elongated tail domain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 9, 2023