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NM_000526.5(KRT14):c.373C>T (p.Arg125Cys) AND Epidermolysis bullosa simplex, Koebner type

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 3, 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:
RCV001807730.2

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]
Observations:
1

Condition(s)

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
SCV0020586173billion
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 3, 2022) 		germlineclinical testing

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

PMID:1717157

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not 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 3billion, SCV002058617.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000014612, PMID:1717157, PS1_S). Different missense changes at the same codon have been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000014613, PMID:1717157, 7561171, 12890194, 14987259, 19854623, PM5_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.899, 3CNET: 0.991, PP3_P). A missense variant is a common mechanism associated with Epidermolysis bullosa simplex 1B (PP2_P). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). The variant is located in a well-established functional domain or exonic hotspot, where pathogenic variants have frequently reported (PM1_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 13, 2024