NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 6, 2017
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000597784.2

Allele description [Variation Report for NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)]

NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)

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.95G>T (p.Arg32Leu)

HGVS:

NC_000013.11:g.20189487C>A
NG_008358.1:g.8489G>T
NM_004004.6:c.95G>TMANE SELECT
NP_003995.2:p.Arg32Leu
LRG_1350t1:c.95G>T
LRG_1350:g.8489G>T
LRG_1350p1:p.Arg32Leu
NC_000013.10:g.20763626C>A
NM_004004.5:c.95G>T

Protein change:

R32L

Links:

dbSNP: rs111033190

NCBI 1000 Genomes Browser:

rs111033190

Molecular consequence:

NM_004004.6:c.95G>T - missense variant - [Sequence Ontology: SO:0001583]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000790085	Counsyl	no assertion criteria provided	Likely pathogenic (Mar 6, 2017)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 22925408, 25085072, 19157576, 20154630, 12172394

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000790085

Counsyl

no assertion criteria provided

Likely pathogenic
(Mar 6, 2017)

unknown

clinical testing

PubMed (5)
[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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Unique spectrum of GJB2 mutations in Mexico.

de la Luz Arenas-Sordo M, Menendez I, Hernández-Zamora E, Sirmaci A, Gutiérrez-Tinajero D, McGetrick M, Murphy-Ruiz P, Leyva-Juárez X, Huesca-Hernández F, Dominguez-Aburto J, Tekin M.

Int J Pediatr Otorhinolaryngol. 2012 Nov;76(11):1678-80. doi: 10.1016/j.ijporl.2012.08.005. Epub 2012 Aug 24.

PubMed [citation]

PMID:: 22925408

Frequency of GJB2 and del(GJB6-D13S1830) mutations among an Ecuadorian mestizo population.

Paz-y-Miño C, Beaty D, López-Cortés A, Proaño I.

Int J Pediatr Otorhinolaryngol. 2014 Oct;78(10):1648-54. doi: 10.1016/j.ijporl.2014.07.014. Epub 2014 Jul 21.

PubMed [citation]

PMID:: 25085072

See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV000790085.2

#	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: Feb 20, 2024

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