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

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 25, 2016
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:: RCV000477920.1

Allele description

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
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:: Autosomal recessive nonsyndromic hearing loss 1A
Synonyms:: GJB2-related deafness; Deafness nonsyndromic, Connexin 26 linked; Deafness, autosomal recessive 1A; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009076; MedGen: C2673759; Orphanet: 90636; OMIM: 220290

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

Name:: Ichthyosis, hystrix-like, with hearing loss
Synonyms:: HID SYNDROME; Hystrix-like ichthyosis with deafness
Identifiers:: MONDO: MONDO:0011245; MedGen: C1865234; Orphanet: 477; OMIM: 602540

Name:: Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
Synonyms:: Keratitis-ichthyosis-deafness syndrome, autosomal dominant; KID syndrome, autosomal dominant; Senter syndrome
Identifiers:: MONDO: MONDO:0007850; MedGen: C0265336; Orphanet: 477; OMIM: 148210

Name:: Palmoplantar keratoderma-deafness syndrome
Synonyms:: Keratoderma palmoplantar deafness; Keratoderma palmoplantar, with deafness; Palmoplantar keratoderma and sensorineural deafness; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007852; MedGen: C1835672; Orphanet: 2202; OMIM: 148350

Name:: Knuckle pads, deafness AND leukonychia syndrome (BAPS)
Synonyms:: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS; Knuckle pads, leuconychia and sensorineural deafness; Bart-Pumphrey syndrome
Identifiers:: MONDO: MONDO:0007866; MedGen: C0266004; Orphanet: 2698; OMIM: 149200

Name:: Autosomal dominant nonsyndromic hearing loss 3A
Synonyms:: Deafness, autosomal dominant 3a
Identifiers:: MONDO: MONDO:0011103; MedGen: C2675750; Orphanet: 90635; OMIM: 601544

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PRELID1 PRELI domain containing 1 [Macaca mulatta]
PRELID1 PRELI domain containing 1 [Macaca mulatta]
Gene ID:699254

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000536799	Division of Human Genetics,Children's Hospital of Philadelphia - CSER-PediSeq	no assertion criteria provided	Pathogenic (Jan 25, 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

SCV000536799

Division of Human Genetics,Children's Hospital of Philadelphia - CSER-PediSeq

no assertion criteria provided

Pathogenic
(Jan 25, 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	unknown	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH Jr, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, et al.

Genet Med. 2007 Jul;9(7):413-26.

PubMed [citation]

PMID:: 17666888

Details of each submission

From Division of Human Genetics,Children's Hospital of Philadelphia - CSER-PediSeq, SCV000536799.1

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

Last Updated: Jun 18, 2022

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