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NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys) AND Epidermolysis bullosa simplex with mottled pigmentation

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 3, 2019
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:
RCV001270733.5

Allele description [Variation Report for NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys)]

NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys)

Genes:
LOC126861525:BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 [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.1429G>A (p.Glu477Lys)
HGVS:
  • NC_000012.12:g.52516647C>T
  • NG_008297.1:g.8813G>A
  • NM_000424.4:c.1429G>AMANE SELECT
  • NP_000415.2:p.Glu477Lys
  • NC_000012.11:g.52910431C>T
  • NM_000424.3:c.1429G>A
  • P13647:p.Glu477Lys
Protein change:
E477K; GLU477LYS
Links:
UniProtKB: P13647#VAR_010467; OMIM: 148040.0025; dbSNP: rs59190510
NCBI 1000 Genomes Browser:
rs59190510
Molecular consequence:
  • NM_000424.4:c.1429G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epidermolysis bullosa simplex with mottled pigmentation (EBS2F)
Synonyms:
SPECKLED HYPERPIGMENTATION WITH PUNCTATE PALMOPLANTAR KERATOSES AND CHILDHOOD BLISTERING; EBS with mottled pigmentation; Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007556; MedGen: C0432316; Orphanet: 79397; OMIM: 131960

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001451481Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Pathogenic
(Jan 3, 2019) 		unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.

Yasukawa K, Sawamura D, Goto M, Nakamura H, Jung SY, Kim SC, Shimizu H.

Br J Dermatol. 2006 Aug;155(2):313-7.

PubMed [citation]
PMID:
16882168

Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure.

Jerábková B, Marek J, Bucková H, Kopecková L, Veselý K, Valícková J, Fajkus J, Fajkusová L.

Br J Dermatol. 2010 May;162(5):1004-13. doi: 10.1111/j.1365-2133.2009.09626.x. Epub 2010 Feb 25.

PubMed [citation]
PMID:
20030639
See all PubMed Citations (4)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001451481.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

Across a selection of literature, the KRT5 c.1429G>A (p.Glu477Lys) missense variant has been reported in a heterozygous state in at least 12 individuals with epidermolysis bullosa simplex (Yasukawa et al. 2006; Jerábková et al. 2010; Sathishkumar et al. 2016; Kim et al. 2017). All patients with this variant were reported to have a severe presentation. The affected parent of one patient was also identified to carry the variant (Sathishkumar et al. 2016). The p.Glu477Lys variant was absent from at least 52 healthy control alleles and is not found in the Genome Aggregation Database. This variant is located in the highly conserved KLLEGE motif. Based on the collective evidence, the p.Glu477Lys variant is classified as pathogenic for epidermolysis bullosa simplex.

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

Last Updated: Sep 16, 2024