NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Feb 11, 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:: RCV000037828.18

Allele description [Variation Report for NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)]

NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)

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.249C>G (p.Phe83Leu)

HGVS:

NC_000013.11:g.20189333G>C
NG_008358.1:g.8643C>G
NM_004004.6:c.249C>GMANE SELECT
NP_003995.2:p.Phe83Leu
LRG_1350t1:c.249C>G
LRG_1350:g.8643C>G
LRG_1350p1:p.Phe83Leu
NC_000013.10:g.20763472G>C
NM_004004.5:c.249C>G
P29033:p.Phe83Leu
c.249C>G

Protein change:

F83L

Links:

UniProtKB: P29033#VAR_002142; dbSNP: rs111033218

NCBI 1000 Genomes Browser:

rs111033218

Molecular consequence:

NM_004004.6:c.249C>G - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

functionally_normal [Sequence Ontology: SO:0002219]

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
SCV000061490	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Jun 26, 2012)	germline	clinical testing	PubMed (19) [See all records that cite these PMIDs] 10633135, 9600457, 10982180, 12865758, 12505163, 15464308, 15070423, 15547422, 16222667, 15656949, 15744158, 17041943, 17485979, 17426645, 18668259, 19235794, 20956747, 11102979, 24033266
SCV000227323	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Feb 11, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000061490

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Jun 26, 2012)

germline

clinical testing

PubMed (19)
[See all records that cite these PMIDs]

SCV000227323

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Feb 11, 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	not provided	16	16	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350).

Heathcote K, Syrris P, Carter ND, Patton MA.

J Med Genet. 2000 Jan;37(1):50-1.

PubMed [citation]

PMID:: 10633135
PMCID:: PMC1734451

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.

Scott DA, Kraft ML, Carmi R, Ramesh A, Elbedour K, Yairi Y, Srisailapathy CR, Rosengren SS, Markham AF, Mueller RF, Lench NJ, Van Camp G, Smith RJ, Sheffield VC.

Hum Mutat. 1998;11(5):387-94.

PubMed [citation]

PMID:: 9600457

See all PubMed Citations (19)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061490.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	16	not provided	not provided	clinical testing	PubMed (19)

Description

Phe83Leu in exon 2 of GJB2: This variant is not expected to have clinical signif icance because it has been identified in 0.3% (28/8572) of European American chr omosomes and 0.07% (3/4403) of African American chromosomes from a broad populat ion by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/; db SNP rs111033218). In addition, this has been observed at equal frequencies in af fected individuals and controls (Scott 1998, Heathcote 2000, Prasad 2000, Rabion et 2000, Pandya 2003, Bruzzone 2003, Frei 2004, Roux 2004, Sinnathuray 2004, Che ng 2005, Santos 2005, Frei 2006, Tang 2006, Ramsebner 2007, Ross 2007, Picotti 2 009, Lee 2009, Kimani 2010). Furthermore, functional studies revealed that the v ariant protein behaves similar to that of the wild type protein (Bruzzone 2003).

#	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		16	not provided	16	not provided

From Eurofins Ntd Llc (ga), SCV000227323.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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		2	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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