NM_004004.6(GJB2):c.426C>A (p.Phe142Leu) AND Rare genetic deafness

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 2, 2011
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:: RCV000037852.5

Allele description [Variation Report for NM_004004.6(GJB2):c.426C>A (p.Phe142Leu)]

NM_004004.6(GJB2):c.426C>A (p.Phe142Leu)

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.426C>A (p.Phe142Leu)

HGVS:

NC_000013.11:g.20189156G>T
NG_008358.1:g.8820C>A
NM_004004.6:c.426C>AMANE SELECT
NP_003995.2:p.Phe142Leu
LRG_1350t1:c.426C>A
LRG_1350:g.8820C>A
LRG_1350p1:p.Phe142Leu
NC_000013.10:g.20763295G>T
NM_004004.5:c.426C>A
c.426C>A

Protein change:

F142L

Links:

dbSNP: rs397516877

NCBI 1000 Genomes Browser:

rs397516877

Molecular consequence:

NM_004004.6:c.426C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Rare genetic deafness
Identifiers:: MedGen: C5680250; Orphanet: 96210

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000061514	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Pathogenic (Sep 2, 2011)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 14708631, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000061514

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Pathogenic
(Sep 2, 2011)

germline

clinical testing

PubMed (2)
[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	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness.

Brown CW, Levy ML, Flaitz CM, Reid BS, Manolidis S, Hebert AA, Bender MM, Heilstedt HA, Plunkett KS, Fang P, Roa BB, Chung P, Tang HY, Richard G, Alford RL.

J Invest Dermatol. 2003 Nov;121(5):1221-3. No abstract available.

PubMed [citation]

PMID:: 14708631

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, SCV000061514.5

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

Description

The Phe142Leu variant GJB2 has been reported as a dominant variant in one indivi dual with sensorineural hearing loss and mucocutaneous findings (Brown 2003). Th is variant was shown to have occurred de novo and was absent in 214 control chro mosomes. This data meets our criteria for pathogenicity.

#	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		1	not provided	1	not provided

Last Updated: Dec 24, 2023

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