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NM_000526.5(KRT14):c.484dup (p.Tyr162fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 19, 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:
RCV002894745.3

Allele description [Variation Report for NM_000526.5(KRT14):c.484dup (p.Tyr162fs)]

NM_000526.5(KRT14):c.484dup (p.Tyr162fs)

Gene:
KRT14:keratin 14 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_000526.5(KRT14):c.484dup (p.Tyr162fs)
HGVS:
  • NC_000017.11:g.41586351dup
  • NG_008624.1:g.5545dup
  • NG_008624.2:g.5544dup
  • NM_000526.5:c.484dupMANE SELECT
  • NP_000517.3:p.Tyr162fs
  • NC_000017.10:g.39742602_39742603insA
  • NC_000017.10:g.39742603dup
Protein change:
Y162fs
Molecular consequence:
  • NM_000526.5:c.484dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003236762Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 19, 2022) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex.

Has C, Chang YR, Volz A, Hoeping D, Kohlhase J, Bruckner-Tuderman L.

J Invest Dermatol. 2006 Aug;126(8):1912-4. Epub 2006 Apr 13. No abstract available.

PubMed [citation]
PMID:
16614722

KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family.

Vahidnezhad H, Youssefian L, Saeidian AH, Mozafari N, Barzegar M, Sotoudeh S, Daneshpazhooh M, Isaian A, Zeinali S, Uitto J.

J Invest Dermatol. 2016 Sep;136(9):1897-1901. doi: 10.1016/j.jid.2016.05.106. Epub 2016 Jun 7. No abstract available.

PubMed [citation]
PMID:
27283507
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003236762.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with KRT14-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr162Leufs*9) in the KRT14 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KRT14 are known to be pathogenic (PMID: 16614722, 27283507, 29130490).

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

Last Updated: Sep 29, 2024