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NM_000424.4(KRT5):c.1282G>A (p.Ala428Thr) AND Epidermolysis bullosa simplex

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 6, 2009
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:
RCV001352781.1

Allele description [Variation Report for NM_000424.4(KRT5):c.1282G>A (p.Ala428Thr)]

NM_000424.4(KRT5):c.1282G>A (p.Ala428Thr)

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.1282G>A (p.Ala428Thr)
HGVS:
  • NC_000012.12:g.52516794C>T
  • NG_008297.1:g.8666G>A
  • NM_000424.4:c.1282G>AMANE SELECT
  • NP_000415.2:p.Ala428Thr
  • NC_000012.11:g.52910578C>T
  • NM_000424.3:c.1282G>A
  • P13647:p.Ala428Thr
Protein change:
A428T
Links:
UniProtKB: P13647#VAR_071633; dbSNP: rs267607458
NCBI 1000 Genomes Browser:
rs267607458
Molecular consequence:
  • NM_000424.4:c.1282G>A - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001547411Biomedical Innovation Departament, CIEMAT
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 6, 2009) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

Citations

PubMed

Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in Linker 12 domain of keratin 5.

Matsuki M, Hashimoto K, Yoshikawa K, Yasuno H, Yamanishi K.

Hum Mol Genet. 1995 Oct;4(10):1999-2000. No abstract available.

PubMed [citation]
PMID:
8595431

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, SCV001547411.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 26, 2023