NM_004004.6(GJB2):c.186C>T (p.Asn62=) AND not specified

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Feb 18, 2022
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:: RCV000037818.15

Allele description [Variation Report for NM_004004.6(GJB2):c.186C>T (p.Asn62=)]

NM_004004.6(GJB2):c.186C>T (p.Asn62=)

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.186C>T (p.Asn62=)

HGVS:

NC_000013.11:g.20189396G>A
NG_008358.1:g.8580C>T
NM_004004.6:c.186C>TMANE SELECT
NP_003995.2:p.Asn62=
LRG_1350t1:c.186C>T
LRG_1350:g.8580C>T
LRG_1350p1:p.Asn62=
NC_000013.10:g.20763535G>A
NM_004004.5:c.186C>T
c.186C>T
p.Asn62Asn

Links:

dbSNP: rs397516869

NCBI 1000 Genomes Browser:

rs397516869

Molecular consequence:

NM_004004.6:c.186C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000061480	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Jun 21, 2016)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 19043807, 24612839, 24645897, 14722929, 24033266
SCV002103717	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Feb 18, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000061480

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Jun 21, 2016)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV002103717

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely benign
(Feb 18, 2022)

germline

clinical testing

Citation Link

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	germline	not provided	3	2	not provided	not provided	not provided	clinical testing

Citations

PubMed

Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population.

Han SH, Park HJ, Kang EJ, Ryu JS, Lee A, Yang YH, Lee KR.

J Hum Genet. 2008;53(11-12):1022-1028. doi: 10.1007/s10038-008-0342-7. Epub 2008 Dec 2.

PubMed [citation]

PMID:: 19043807

Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum.

Chen K, Zong L, Liu M, Wang X, Zhou W, Zhan Y, Cao H, Dong C, Tang H, Jiang H.

J Transl Med. 2014 Mar 11;12:64. doi: 10.1186/1479-5876-12-64.

PubMed [citation]

PMID:: 24612839
PMCID:: PMC3975227

See all PubMed Citations (5)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061480.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	PubMed (5)

Description

p.Asn62Asn in exon 2 of GJB2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, it is not located with in the splice consensus sequence. It has been identified in 4/66700 European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs397516869).

#	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		3	not provided	2	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002103717.1

#	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: Oct 26, 2024

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