NM_000526.5(KRT14):c.389T>C (p.Leu130Pro) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 4, 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:: RCV000056726.4

Allele description [Variation Report for NM_000526.5(KRT14):c.389T>C (p.Leu130Pro)]

NM_000526.5(KRT14):c.389T>C (p.Leu130Pro)

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.389T>C (p.Leu130Pro)

HGVS:

NC_000017.11:g.41586446A>G
NG_008624.1:g.5450T>C
NM_000526.5:c.389T>CMANE SELECT
NP_000517.3:p.Leu130Pro
NC_000017.10:g.39742698A>G
NM_000526.4:c.389T>C
P02533:p.Leu130Pro

Protein change:

L130P

Links:

UniProtKB: P02533#VAR_023722; dbSNP: rs57522245

NCBI 1000 Genomes Browser:

rs57522245

Molecular consequence:

NM_000526.5:c.389T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000087839	Epithelial Biology; Institute of Medical Biology, Singapore	no classification provided	not provided	not provided	not provided
SCV002234953	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (May 4, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 12655565, 16786515, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000087839

Epithelial Biology; Institute of Medical Biology, Singapore

no classification provided

not provided

SCV002234953

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(May 4, 2022)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.

Schuilenga-Hut PH, Vlies Pv, Jonkman MF, Waanders E, Buys CH, Scheffer H.

Hum Mutat. 2003 Apr;21(4):447. Review.

PubMed [citation]

PMID:: 12655565

Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.

Müller FB, Küster W, Wodecki K, Almeida H Jr, Bruckner-Tuderman L, Krieg T, Korge BP, Arin MJ.

Hum Mutat. 2006 Jul;27(7):719-20.

PubMed [citation]

PMID:: 16786515

See all PubMed Citations (3)

Details of each submission

From Epithelial Biology; Institute of Medical Biology, Singapore, SCV000087839.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Invitae, SCV002234953.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 130 of the KRT14 protein (p.Leu130Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with epidermolysis bullosa simplex (PMID: 12655565, 16786515; Invitae). ClinVar contains an entry for this variant (Variation ID: 66355). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt KRT14 protein function. For these reasons, this variant has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 14, 2024

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