NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) AND Autosomal dominant nonsyndromic hearing loss 3A

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 18, 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:: RCV000411084.3

Allele description [Variation Report for NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)]

NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.11

Genomic location:

Preferred name:

NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)

HGVS:

NC_000013.11:g.20189143C>T
NG_008358.1:g.8833G>A
NM_004004.6:c.439G>AMANE SELECT
NP_003995.2:p.Glu147Lys
LRG_1350t1:c.439G>A
LRG_1350:g.8833G>A
LRG_1350p1:p.Glu147Lys
NC_000013.10:g.20763282C>T
NM_004004.5:c.439G>A

Protein change:

E147K

Links:

dbSNP: rs767178508

NCBI 1000 Genomes Browser:

rs767178508

Molecular consequence:

NM_004004.6:c.439G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000487519	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Feb 18, 2016)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 20022641, 14676473, 14985372 mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000487519

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Feb 18, 2016)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.

Gravina LP, Foncuberta ME, Prieto ME, Garrido J, Barreiro C, Chertkoff L.

Int J Pediatr Otorhinolaryngol. 2010 Mar;74(3):250-4. doi: 10.1016/j.ijporl.2009.11.014. Epub 2009 Dec 22.

PubMed [citation]

PMID:: 20022641

A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness.

Frei K, Lucas T, Ramsebner R, Schöfer C, Baumgartner WD, Weipoltshammer K, Erginel-Unaltuna N, Wachtler FJ, Kirschhofer K.

Audiol Neurootol. 2004 Jan-Feb;9(1):47-50.

PubMed [citation]

PMID:: 14676473

See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000487519.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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