NM_004004.6(GJB2):c.24G>A (p.Thr8=) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Nov 14, 2017
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000172829.5

Allele description [Variation Report for NM_004004.6(GJB2):c.24G>A (p.Thr8=)]

NM_004004.6(GJB2):c.24G>A (p.Thr8=)

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.24G>A (p.Thr8=)

HGVS:

NC_000013.11:g.20189558C>T
NG_008358.1:g.8418G>A
NM_004004.6:c.24G>AMANE SELECT
NP_003995.2:p.Thr8=
LRG_1350t1:c.24G>A
LRG_1350:g.8418G>A
LRG_1350p1:p.Thr8=
NC_000013.10:g.20763697C>T
NM_004004.5:c.24G>A
NP_003995.2:p.Thr8Thr

Links:

dbSNP: rs533231493

NCBI 1000 Genomes Browser:

rs533231493

Molecular consequence:

NM_004004.6:c.24G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

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

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Rattus norvegicus linker for activation of T cells family, member 2 (Lat2), mRNA
Rattus norvegicus linker for activation of T cells family, member 2 (Lat2), mRNA
gi|2322901250|ref|NM_173840.2|

Nucleotide
Serpina7 serpin family A member 7 [Rattus norvegicus]
Serpina7 serpin family A member 7 [Rattus norvegicus]
Gene ID:81806

Gene
81806[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000223794	Deafness research group, Biosystems & Integrative Sciences Institute, University of Lisbon See additional submitters Department of Head and Neck, Hospital Egas Moniz, Centro Hospitalar de Lisboa Oriental, EPE	criteria provided, single submitter (Submitter's publication)	Uncertain significance (Dec 12, 2012)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000793800	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Nov 14, 2017)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24158611, 23668481 Citation Link,
SCV002086073	Natera, Inc.	no assertion criteria provided	Likely benign (Feb 17, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000223794

Deafness research group, Biosystems & Integrative Sciences Institute, University of Lisbon

See additional submitters

criteria provided, single submitter

(Submitter's publication)

Uncertain significance
(Dec 12, 2012)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000793800

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Nov 14, 2017)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV002086073

Natera, Inc.

no assertion criteria provided

Likely benign
(Feb 17, 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	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases.

Dalamón V, Florencia Wernert M, Lotersztein V, Craig PO, Diamante RR, Barteik ME, Curet C, Paoli B, Mansilla E, Elgoyhen AB.

Mol Biol Rep. 2013 Dec;40(12):6945-55. doi: 10.1007/s11033-013-2814-x. Epub 2013 Oct 25.

PubMed [citation]

PMID:: 24158611

Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.

Matos TD, Simões-Teixeira H, Caria H, Gonçalves AC, Chora J, Correia Mdo C, Moura C, Rosa H, Monteiro L, O'Neill A, Dias Ó, Andrea M, Fialho G.

Int J Audiol. 2013 Jul;52(7):466-71. doi: 10.3109/14992027.2013.783719. Epub 2013 May 13.

PubMed [citation]

PMID:: 23668481

Details of each submission

From Deafness research group, Biosystems & Integrative Sciences Institute, University of Lisbon, SCV000223794.3

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

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

From Counsyl, SCV000793800.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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., SCV002086073.1

#	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

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