NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Feb 11, 2015
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:: RCV000169604.3

Allele description [Variation Report for NM_004004.6(GJB2):c.230G>A (p.Trp77Ter)]

NM_004004.6(GJB2):c.230G>A (p.Trp77Ter)

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.230G>A (p.Trp77Ter)

HGVS:

NC_000013.11:g.20189352C>T
NG_008358.1:g.8624G>A
NM_004004.6:c.230G>AMANE SELECT
NP_003995.2:p.Trp77Ter
LRG_1350t1:c.230G>A
LRG_1350:g.8624G>A
LRG_1350p1:p.Trp77Ter
NC_000013.10:g.20763491C>T
NM_004004.5:c.230G>A
p.Trp77X

Protein change:

W77*

Links:

dbSNP: rs104894395

NCBI 1000 Genomes Browser:

rs104894395

Molecular consequence:

NM_004004.6:c.230G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 1A (DFNB1A)
Synonyms:: Deafness nonsyndromic, Connexin 26 linked; Deafness, autosomal recessive 1A; DFNB 1 Nonsyndromic Hearing Loss and Deafness; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009076; MedGen: C2673759; Orphanet: 90636; OMIM: 220290

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000221125	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Feb 11, 2015)	unknown	literature only	PubMed (3) [See all records that cite these PMIDs] 22695344, 12792423, 19707039 Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015), Citation Link,
SCV001453345	Natera, Inc.	no assertion criteria provided	Pathogenic (Sep 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000221125

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Feb 11, 2015)

unknown

literature only

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

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

Citation Link,

SCV001453345

Natera, Inc.

no assertion criteria provided

Pathogenic
(Sep 16, 2020)

germline

clinical testing

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
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.

Bazazzadegan N, Nikzat N, Fattahi Z, Nishimura C, Meyer N, Sahraian S, Jamali P, Babanejad M, Kashef A, Yazdan H, Sabbagh Kermani F, Taghdiri M, Azadeh B, Mojahedi F, Khoshaeen A, Habibi H, Reyhanifar F, Nouri N, Smith RJ, Kahrizi K, Najmabadi H.

Int J Pediatr Otorhinolaryngol. 2012 Aug;76(8):1164-74. doi: 10.1016/j.ijporl.2012.04.026. Epub 2012 Jun 12.

PubMed [citation]

PMID:: 22695344

Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness.

Hwa HL, Ko TM, Hsu CJ, Huang CH, Chiang YL, Oong JL, Chen CC, Hsu CK.

Genet Med. 2003 May-Jun;5(3):161-5.

PubMed [citation]

PMID:: 12792423

See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000221125.2

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

From Natera, Inc., SCV001453345.1

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine