U.S. flag

An official website of the United States government

NM_000424.4(KRT5):c.1649del (p.Gly550fs) 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:
RCV001352788.1

Allele description [Variation Report for NM_000424.4(KRT5):c.1649del (p.Gly550fs)]

NM_000424.4(KRT5):c.1649del (p.Gly550fs)

Gene:
KRT5:keratin 5 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_000424.4(KRT5):c.1649del (p.Gly550fs)
HGVS:
  • NC_000012.12:g.52515071del
  • NG_008297.1:g.10394del
  • NM_000424.4:c.1649delMANE SELECT
  • NP_000415.2:p.Gly550fs
  • NC_000012.11:g.52908850del
  • NC_000012.11:g.52908855del
  • NM_000424.3:c.1649del
  • NM_000424.3:c.1649delG
  • NM_000424.4:c.1649delGMANE SELECT
  • p.Gly550Alafs*77
Protein change:
G550fs
Links:
OMIM: 148040.0017; dbSNP: rs61126080
NCBI 1000 Genomes Browser:
rs61126080
Molecular consequence:
  • NM_000424.4:c.1649del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001547418Biomedical Innovation Departament, CIEMAT
criteria provided, single submitter

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

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

Citations

PubMed

Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients.

Stephens K, Ehrlich P, Weaver M, Le R, Spencer A, Sybert VP.

J Invest Dermatol. 1997 Mar;108(3):349-53.

PubMed [citation]
PMID:
9036937

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, SCV001547418.1

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

Last Updated: May 19, 2024