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NM_000424.4(KRT5):c.1396G>C (p.Glu466Gln) AND Epidermolysis bullosa simplex

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 7, 2006
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:
RCV001352784.1

Allele description [Variation Report for NM_000424.4(KRT5):c.1396G>C (p.Glu466Gln)]

NM_000424.4(KRT5):c.1396G>C (p.Glu466Gln)

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.1396G>C (p.Glu466Gln)
HGVS:
  • NC_000012.12:g.52516680C>G
  • NG_008297.1:g.8780G>C
  • NM_000424.4:c.1396G>CMANE SELECT
  • NP_000415.2:p.Glu466Gln
  • NC_000012.11:g.52910464C>G
  • p.Glu466Asn
Protein change:
E466Q
Links:
dbSNP: rs1938615785
NCBI 1000 Genomes Browser:
rs1938615785
Molecular consequence:
  • NM_000424.4:c.1396G>C - 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
SCV001547414Biomedical Innovation Departament, CIEMAT
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 7, 2006) 		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

Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex.

Dong W, Ryynänen M, Uitto J.

Hum Mutat. 1993;2(2):94-102.

PubMed [citation]
PMID:
7686424

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, SCV001547414.1

#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