NM_000526.5(KRT14):c.1151T>C (p.Leu384Pro) AND Epidermolysis bullosa simplex 1A, generalized severe

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 30, 2023
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003387723.1

Allele description [Variation Report for NM_000526.5(KRT14):c.1151T>C (p.Leu384Pro)]

NM_000526.5(KRT14):c.1151T>C (p.Leu384Pro)

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.1151T>C (p.Leu384Pro)

HGVS:

NC_000017.11:g.41583358A>G
NG_008624.1:g.8538T>C
NM_000526.5:c.1151T>CMANE SELECT
NP_000517.3:p.Leu384Pro
NC_000017.10:g.39739610A>G
NM_000526.4:c.1151T>C
P02533:p.Leu384Pro

Protein change:

L384P; LEU384PRO

Links:

UniProtKB: P02533#VAR_003843; OMIM: 148066.0001; dbSNP: rs59629244

NCBI 1000 Genomes Browser:

rs59629244

Molecular consequence:

NM_000526.5:c.1151T>C - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004099488	Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	no assertion criteria provided	Likely pathogenic (Oct 30, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004099488

Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

no assertion criteria provided

Likely pathogenic
(Oct 30, 2023)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Zotz-Klimas Genetics Lab, MVZ Zotz Klimas, SCV004099488.1

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

#	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		not provided	not provided	not provided	not provided

Last Updated: Nov 4, 2023

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