NM_000526.5(KRT14):c.1205T>G (p.Leu402Arg) AND Epidermolysis bullosa simplex

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 7, 2016
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:: RCV001352831.1

Allele description [Variation Report for NM_000526.5(KRT14):c.1205T>G (p.Leu402Arg)]

NM_000526.5(KRT14):c.1205T>G (p.Leu402Arg)

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.1205T>G (p.Leu402Arg)

HGVS:

NC_000017.11:g.41583304A>C
NG_008624.1:g.8592T>G
NM_000526.5:c.1205T>GMANE SELECT
NP_000517.3:p.Leu402Arg
NC_000017.10:g.39739556A>C
p.Leu402Arg

Protein change:

L402R

Links:

dbSNP: rs1907401835

NCBI 1000 Genomes Browser:

rs1907401835

Molecular consequence:

NM_000526.5:c.1205T>G - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

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Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), mRN...
Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), mRNA
gi|4757705|ref|NM_004299.1|

Nucleotide
FUBP3 far upstream element binding protein 3 [Homo sapiens]
FUBP3 far upstream element binding protein 3 [Homo sapiens]
Gene ID:8939

Gene
8939[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001547424	Biomedical Innovation Departament, CIEMAT	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 7, 2016)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001547424

Biomedical Innovation Departament, CIEMAT

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 7, 2016)

germline

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	research

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 Biomedical Innovation Departament, CIEMAT, SCV001547424.1

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

#	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		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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