NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) AND Autosomal dominant nonsyndromic hearing loss 3A

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

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 9, 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:: RCV000411693.1

Allele description

NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)

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.59T>C (p.Ile20Thr)

HGVS:

NC_000013.11:g.20189523A>G
NG_008358.1:g.8453T>C
NM_004004.6:c.59T>CMANE SELECT
NP_003995.2:p.Ile20Thr
LRG_1350t1:c.59T>C
LRG_1350:g.8453T>C
LRG_1350p1:p.Ile20Thr
NC_000013.10:g.20763662A>G
NM_004004.5:c.59T>C

Protein change:

I20T

Links:

dbSNP: rs1057517519

NCBI 1000 Genomes Browser:

rs1057517519

Molecular consequence:

NM_004004.6:c.59T>C - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

loss_of_function_variant [Sequence Ontology: SO:0002054]

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
SCV000487697	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Aug 9, 2016)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 16217030, 11313763, 16380907, 25401782, 24256046 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

SCV000487697

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Aug 9, 2016)

unknown

clinical testing

PubMed (5)
[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

Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions.

Zhang Y, Tang W, Ahmad S, Sipp JA, Chen P, Lin X.

Proc Natl Acad Sci U S A. 2005 Oct 18;102(42):15201-6. Epub 2005 Oct 10.

PubMed [citation]

PMID:: 16217030
PMCID:: PMC1257692

Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.

Löffler J, Nekahm D, Hirst-Stadlmann A, Günther B, Menzel HJ, Utermann G, Janecke AR.

Eur J Hum Genet. 2001 Mar;9(3):226-30.

PubMed [citation]

PMID:: 11313763

See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV000487697.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

#	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: Dec 11, 2022

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