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NM_000526.5(KRT14):c.166C>T (p.Arg56Cys) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 12, 2021
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:
RCV002489369.1

Allele description [Variation Report for NM_000526.5(KRT14):c.166C>T (p.Arg56Cys)]

NM_000526.5(KRT14):c.166C>T (p.Arg56Cys)

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.166C>T (p.Arg56Cys)
HGVS:
  • NC_000017.11:g.41586669G>A
  • NG_008624.1:g.5227C>T
  • NM_000526.5:c.166C>TMANE SELECT
  • NP_000517.3:p.Arg56Cys
  • NC_000017.10:g.39742921G>A
  • NC_000017.10:g.39742921G>A
  • NM_000526.4:c.166C>T
Protein change:
R56C
Links:
dbSNP: rs117484558
NCBI 1000 Genomes Browser:
rs117484558
Molecular consequence:
  • NM_000526.5:c.166C>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:
Dermatopathia pigmentosa reticularis (DPR)
Identifiers:
MONDO: MONDO:0007445; MedGen: C0406778; OMIM: 125595
Name:
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
Synonyms:
Epidermolysis bullosa simplex, autosomal recessive
Identifiers:
MONDO: MONDO:0010976; MedGen: C3715082; Orphanet: 89838; OMIM: 601001
Name:
Epidermolysis bullosa simplex, Koebner type
Synonyms:
Generalized EBS; EBS 2
Identifiers:
MONDO: MONDO:0007554; MedGen: C5561924; Orphanet: 79399; OMIM: 131900
Name:
Epidermolysis bullosa simplex 1C, localized
Synonyms:
Epidermolysis bullosa simplex, Cockayne-Touraine type; Cockayne-Touraine type epidermolysis bullosa; EBS, acral form; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007551; MedGen: C0080333; Orphanet: 79400; OMIM: 131800
Name:
Naegeli-Franceschetti-Jadassohn syndrome (NFJS)
Synonyms:
Naegeli syndrome; NFJ syndrome; Reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy
Identifiers:
MONDO: MONDO:0008059; MedGen: C0343111; Orphanet: 69087; OMIM: 161000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002796030Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Oct 12, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002796030.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024