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NM_000526.5(KRT14):c.373C>T (p.Arg125Cys) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 15, 2022
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:
RCV002243645.3

Allele description [Variation Report for NM_000526.5(KRT14):c.373C>T (p.Arg125Cys)]

NM_000526.5(KRT14):c.373C>T (p.Arg125Cys)

Gene:
KRT14:keratin 14 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_000526.5(KRT14):c.373C>T (p.Arg125Cys)
HGVS:
  • NC_000017.11:g.41586462G>A
  • NG_008624.1:g.5434C>T
  • NM_000526.5:c.373C>TMANE SELECT
  • NP_000517.3:p.Arg125Cys
  • NC_000017.10:g.39742714G>A
  • NM_000526.4:c.373C>T
  • P02533:p.Arg125Cys
Protein change:
R125C; ARG125CYS
Links:
UniProtKB: P02533#VAR_003837; OMIM: 148066.0002; dbSNP: rs60399023
NCBI 1000 Genomes Browser:
rs60399023
Molecular consequence:
  • NM_000526.5:c.373C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epidermolysis bullosa simplex 1A, generalized severe (EBS1A)
Synonyms:
Epidermolysis bullosa herpetiformis, Dowling-Meara; Epidermolysis bullosa simplex Dowling-Meara type
Identifiers:
MONDO: MONDO:0007550; MedGen: C0079295; Orphanet: 79396; OMIM: 131760
Name:
Epidermolysis bullosa simplex, Koebner type
Synonyms:
Generalized EBS; EBS 2
Identifiers:
MONDO: MONDO:0007554; MedGen: C5561924; Orphanet: 79399; OMIM: 131900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002512250Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 15, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002512250.1

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

Description

ACMG classification criteria: PS3 supporting, PS4 strong, PM1 moderate, PM2 moderate, PM5, PM6 moderate, PP1 supporting, PP3 supporting

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

Last Updated: Oct 13, 2024