NM_000424.4(KRT5):c.1394T>G (p.Val465Gly) AND Epidermolysis bullosa simplex, Koebner type

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 20, 2017
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:: RCV000505555.2

Allele description [Variation Report for NM_000424.4(KRT5):c.1394T>G (p.Val465Gly)]

NM_000424.4(KRT5):c.1394T>G (p.Val465Gly)

Genes:

LOC126861525:BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 [Gene]
KRT5:keratin 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

Preferred name:

NM_000424.4(KRT5):c.1394T>G (p.Val465Gly)

HGVS:

NC_000012.12:g.52516682A>C
NG_008297.1:g.8778T>G
NM_000424.4:c.1394T>GMANE SELECT
NP_000415.2:p.Val465Gly
NC_000012.11:g.52910466A>C
NM_000424.3:c.1394T>G

Protein change:

V465G

Links:

dbSNP: rs1555156076

NCBI 1000 Genomes Browser:

rs1555156076

Molecular consequence:

NM_000424.4:c.1394T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Epidermolysis bullosa simplex, Koebner type
Synonyms:: Generalized EBS; EBS 2
Identifiers:: MONDO: MONDO:0007554; MedGen: C5561924; Orphanet: 79399; OMIM: 131900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000599804	Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	no assertion criteria provided	Likely pathogenic (Apr 20, 2017)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000599804

Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

no assertion criteria provided

Likely pathogenic
(Apr 20, 2017)

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 Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV000599804.1

#	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: Aug 5, 2023

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