NM_000166.6(GJB1):c.556G>T (p.Glu186Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 19, 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:: RCV000214191.1

Allele description [Variation Report for NM_000166.6(GJB1):c.556G>T (p.Glu186Ter)]

NM_000166.6(GJB1):c.556G>T (p.Glu186Ter)

Gene:

GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_000166.6(GJB1):c.556G>T (p.Glu186Ter)

HGVS:

NC_000023.11:g.71224263G>T
NG_008357.1:g.14052G>T
NM_000166.6:c.556G>TMANE SELECT
NM_001097642.3:c.556G>T
NP_000157.1:p.Glu186Ter
NP_001091111.1:p.Glu186Ter
LRG_245t2:c.556G>T
LRG_245:g.14052G>T
LRG_245p2:p.Glu186Ter
NC_000023.10:g.70444113G>T
NM_000166.5:c.556G>T

Protein change:

E186*

Links:

dbSNP: rs116840821

NCBI 1000 Genomes Browser:

rs116840821

Molecular consequence:

NM_000166.6:c.556G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001097642.3:c.556G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000279583	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Feb 19, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000279583

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Feb 19, 2016)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000279583.9

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

Description

The E186X nonsense variant in the GJB1 gene has been reported previously in association with CMTX1 (Ionasescu et al., 1994; Basu et al., 2011). The E186X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This pathogenic variant is predicted to cause loss of normal protein function through protein truncation as the last 98 amino acid residues are lost. Therefore, the presence of E186X is consistent with a diagnosis of CMTX1.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 17, 2023

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