NM_004004.6(GJB2):c.167del (p.Leu56fs) AND Mutilating keratoderma

Germline classification:: Pathogenic (1 submission)
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:: RCV000291910.16

Allele description [Variation Report for NM_004004.6(GJB2):c.167del (p.Leu56fs)]

NM_004004.6(GJB2):c.167del (p.Leu56fs)

Gene:

GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q12.11

Genomic location:

Preferred name:

NM_004004.6(GJB2):c.167del (p.Leu56fs)

Other names:

NM_004004.5(GJB2):c.167delT(p.Leu56Argfs); NM_004004.5(GJB2):c.167delT

HGVS:

NC_000013.11:g.20189415_20189415delA
NC_000013.11:g.20189415del
NG_008358.1:g.8561del
NM_004004.6:c.167delMANE SELECT
NP_003995.2:p.Leu56fs
LRG_1350t1:c.167del
LRG_1350:g.8561del
LRG_1350p1:p.Leu56fs
NC_000013.10:g.20763554del
NC_000013.10:g.20763554delA
NC_000013.11:g.20189415_20189415delA
NC_000013.11:g.20189415delA
NM_004004.5:c.167delT
NM_004004.6:c.167delTMANE SELECT
c.167delT
c.167delT (p.Leu56Argfs*26)
p.Leu56Argfs*26
p.Leu56ArgfsX26
p.Leu56fs

Protein change:

L56fs

Links:

OMIM: 121011.0010; dbSNP: rs80338942

NCBI 1000 Genomes Browser:

rs80338942

Molecular consequence:

NM_004004.6:c.167del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Mutilating keratoderma (VOWNKL)
Synonyms:: Deafness, congenital, with keratopachydermia and constrictions of fingers and toes; Keratoderma hereditarium mutilans
Identifiers:: MONDO: MONDO:0007422; MedGen: C0265964; Orphanet: 494; OMIM: 124500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002516477	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Pathogenic (May 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002516477

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Pathogenic
(May 4, 2022)

germline

clinical testing

Citation Link

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

Details of each submission

From Mendelics, SCV002516477.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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