NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Mar 20, 2015
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:: RCV000038709.13

Allele description [Variation Report for NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr)]

NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr)

Gene:

GJB6:gap junction protein beta 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.11

Genomic location:

Preferred name:

NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr)

HGVS:

NC_000013.11:g.20222886A>T
NG_008323.1:g.14510T>A
NM_001110219.3:c.595T>AMANE SELECT
NM_001110220.3:c.595T>A
NM_001110221.3:c.595T>A
NM_001370090.1:c.595T>A
NM_001370091.1:c.595T>A
NM_001370092.1:c.595T>A
NM_006783.5:c.595T>A
NP_001103689.1:p.Ser199Thr
NP_001103690.1:p.Ser199Thr
NP_001103691.1:p.Ser199Thr
NP_001357019.1:p.Ser199Thr
NP_001357020.1:p.Ser199Thr
NP_001357021.1:p.Ser199Thr
NP_006774.2:p.Ser199Thr
NP_006774.2:p.Ser199Thr
LRG_1395t1:c.595T>A
LRG_1395:g.14510T>A
LRG_1395p1:p.Ser199Thr
NC_000013.10:g.20797025A>T
NM_001110219.2:c.595T>A
NM_006783.4:c.595T>A
O95452:p.Ser199Thr
c.595T>A

Protein change:

S199T

Links:

UniProtKB: O95452#VAR_022425; dbSNP: rs111033338

NCBI 1000 Genomes Browser:

rs111033338

Molecular consequence:

NM_001110219.3:c.595T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001110220.3:c.595T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001110221.3:c.595T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370090.1:c.595T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370091.1:c.595T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370092.1:c.595T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006783.5:c.595T>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000062387	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Nov 3, 2011)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 10610709, 24033266
SCV000229106	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Mar 20, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000062387

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Nov 3, 2011)

germline

clinical testing

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

SCV000229106

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Mar 20, 2015)

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	6	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	18	18	not provided	not provided	not provided	clinical testing

Citations

PubMed

Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12.

Kelley PM, Abe S, Askew JW, Smith SD, Usami Si, Kimberling WJ.

Genomics. 1999 Dec 1;62(2):172-6.

PubMed [citation]

PMID:: 10610709

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000062387.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	18	not provided	not provided	clinical testing	PubMed (2)

Description

Ser199Thr in exon 3 of the GJB6 gene: This variant is not expected to have clini cal significance because it was found at equal frequency in individuals with hea ring loss and controls (Kelley 1999, Libby 2008, Carlsson 2007, rs111033338).

#	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		18	not provided	18	not provided

From Eurofins Ntd Llc (ga), SCV000229106.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	6	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		6	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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