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

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 1, 2017
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000679886.5

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:

Condition(s)

Name:: Epidermolysis bullosa simplex
Synonyms:: Epidermolysis bullosa simplex, Weber-Cockayne type (subtype); Epidermolysis bullosa simplex, Dowling-Meara type (subtype); Epidermolysis bullosa simplex with mottled pigmentation (subtype)
Identifiers:: MONDO: MONDO:0017610; MedGen: C0079298; OMIM: PS131760

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000807285	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 1, 2017)	de novo	clinical testing	PubMed (3) [See all records that cite these PMIDs] 20151404, 25741868, 25326635
SCV001547420	Biomedical Innovation Departament, CIEMAT	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 13, 2009)	germline, de novo	research	PubMed (2) [See all records that cite these PMIDs] 21623745, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000807285

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 1, 2017)

de novo

clinical testing

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

SCV001547420

Biomedical Innovation Departament, CIEMAT

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 13, 2009)

germline, de novo

research

PubMed (2)
[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	yes	3	not provided	not provided	not provided	not provided	research
not provided	de novo	yes	3	not provided	not provided	not provided	not provided	research, clinical testing

Citations

PubMed

The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradation.

Löffek S, Wöll S, Höhfeld J, Leube RE, Has C, Bruckner-Tuderman L, Magin TM.

Hum Mutat. 2010 Apr;31(4):466-76. doi: 10.1002/humu.21222.

PubMed [citation]

PMID:: 20151404

Molecular findings among patients referred for clinical whole-exome sequencing.

Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, et al.

JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601.

PubMed [citation]

PMID:: 25326635
PMCID:: PMC4326249

See all PubMed Citations (4)

Details of each submission

From Baylor Genetics, SCV000807285.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing (GTR000508680.4)	PubMed (3)

Description

This mutation has been previously reported as disease-causing and was found once in our laboratory de novo in a 9-month-old male with epidrmolysis bullosa simplex in wrist, hands, feet, and mouth; preauricular skin tag, microcephalic, normal development

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided	(GTR000508680.4)	not provided	not provided	not provided	not provided

From Biomedical Innovation Departament, CIEMAT, SCV001547420.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	research	PubMed (2)
2	not provided	3	not provided	not provided	research	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided
2	de novo	yes	not provided	not provided	not provided		3	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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