NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) AND Rare genetic deafness

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 18, 2009
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:: RCV000037856.5

Allele description [Variation Report for NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)]

NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)

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.456C>A (p.Tyr152Ter)

HGVS:

NC_000013.11:g.20189126G>T
NG_008358.1:g.8850C>A
NM_004004.6:c.456C>AMANE SELECT
NP_003995.2:p.Tyr152Ter
LRG_1350t1:c.456C>A
LRG_1350:g.8850C>A
LRG_1350p1:p.Tyr152Ter
NC_000013.10:g.20763265G>T
NM_004004.5:c.456C>A
c.456C>A
p.Tyr152X

Protein change:

Y152*

Links:

dbSNP: rs111033420

NCBI 1000 Genomes Browser:

rs111033420

Molecular consequence:

NM_004004.6:c.456C>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Rare genetic deafness
Identifiers:: MedGen: C5680250; Orphanet: 96210

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000061518	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely pathogenic (May 18, 2009)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 19366456, 12865758, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000061518

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely pathogenic
(May 18, 2009)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.

Dai P, Yu F, Han B, Liu X, Wang G, Li Q, Yuan Y, Liu X, Huang D, Kang D, Zhang X, Yuan H, Yao K, Hao J, He J, He Y, Wang Y, Ye Q, Yu Y, Lin H, Liu L, Deng W, et al.

J Transl Med. 2009 Apr 14;7:26. doi: 10.1186/1479-5876-7-26.

PubMed [citation]

PMID:: 19366456
PMCID:: PMC2679712

Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.

Pandya A, Arnos KS, Xia XJ, Welch KO, Blanton SH, Friedman TB, Garcia Sanchez G, Liu MD XZ, Morell R, Nance WE.

Genet Med. 2003 Jul-Aug;5(4):295-303.

PubMed [citation]

PMID:: 12865758

See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061518.5

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

Last Updated: Jul 15, 2024

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