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NM_000424.4(KRT5):c.508G>A (p.Glu170Lys) AND KRT5-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 13, 2024
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:
RCV003894807.3

Allele description [Variation Report for NM_000424.4(KRT5):c.508G>A (p.Glu170Lys)]

NM_000424.4(KRT5):c.508G>A (p.Glu170Lys)

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.508G>A (p.Glu170Lys)
HGVS:
  • NC_000012.12:g.52519789C>T
  • NG_008297.1:g.5671G>A
  • NM_000424.4:c.508G>AMANE SELECT
  • NP_000415.2:p.Glu170Lys
  • NC_000012.11:g.52913573C>T
  • NM_000424.3:c.508G>A
  • P13647:p.Glu170Lys
Protein change:
E170K; GLU170LYS
Links:
UniProtKB: P13647#VAR_026537; OMIM: 148040.0020; dbSNP: rs59115483
NCBI 1000 Genomes Browser:
rs59115483
Molecular consequence:
  • NM_000424.4:c.508G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
KRT5-related disorder
Synonyms:
KRT5-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004711545PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Mar 13, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004711545.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The KRT5 c.508G>A variant is predicted to result in the amino acid substitution p.Glu170Lys. This variant has been reported in the heterozygous, compound heterozygous, or homozygous state in individuals with epidermolysis bullosa simplex (EBS) and segregated with disease in the affected family members (for example, see Yasukawa et al. 2002. PubMed ID: 11973334; Ołdak et al. 2011. PubMed ID: 21144712; Wertheim-Tysarowska et al. 2016. PubMed ID: 26432462; González-Cantero et al. 2017. PubMed ID: 28425111). Fluorescent confocal microscopy of affected patient tissues revealed that this variant leads to increased formation of keratin aggregates and disruption of the epidermal keratin filament network (Yasukawa et al. 2002. PubMed ID: 11973334). This variant is reported in 0.0080% of alleles in individuals of African descent in gnomAD. Of note, a different missense variant at the same amino acid position (p.Glu170Gly) has also been reported in individuals with an EBS phenotype (Family 18 in Table S1, Rugg et al. 2007. PubMed ID: 17039244). Taken together, the p.Glu170Lys variant is interpreted as pathogenic.

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

Last Updated: Nov 24, 2024