NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) AND Autosomal dominant nonsyndromic hearing loss 3A

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 23, 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:: RCV000409236.11

Allele description [Variation Report for NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)]

NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)

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.416G>A (p.Ser139Asn)

HGVS:

NC_000013.11:g.20189166C>T
NG_008358.1:g.8810G>A
NM_004004.6:c.416G>AMANE SELECT
NP_003995.2:p.Ser139Asn
LRG_1350t1:c.416G>A
LRG_1350:g.8810G>A
LRG_1350p1:p.Ser139Asn
NC_000013.10:g.20763305C>T
NM_004004.5:c.416G>A
c.416G>A

Protein change:

S139N

Links:

dbSNP: rs76434661

NCBI 1000 Genomes Browser:

rs76434661

Molecular consequence:

NM_004004.6:c.416G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000487632	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Jun 23, 2016)	unknown	clinical testing	PubMed (10) [See all records that cite these PMIDs] 11493200, 21465647, 25266519, 16950989, 22695344, 20234132, 17041943, 24529908, 12910486, 12925341 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

SCV000487632

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Jun 23, 2016)

unknown

clinical testing

PubMed (10)
[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

Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.

Marlin S, Garabédian EN, Roger G, Moatti L, Matha N, Lewin P, Petit C, Denoyelle F.

Arch Otolaryngol Head Neck Surg. 2001 Aug;127(8):927-33.

PubMed [citation]

PMID:: 11493200

Vestibular dysfunction in DFNB1 deafness.

Dodson KM, Blanton SH, Welch KO, Norris VW, Nuzzo RL, Wegelin JA, Marin RS, Nance WE, Pandya A, Arnos KS.

Am J Med Genet A. 2011 May;155A(5):993-1000. doi: 10.1002/ajmg.a.33828. Epub 2011 Apr 4.

PubMed [citation]

PMID:: 21465647
PMCID:: PMC3080433

See all PubMed Citations (10)

Details of each submission

From Counsyl, SCV000487632.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (10)

#	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: Aug 25, 2024

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