NM_000166.6(GJB1):c.565G>A (p.Val189Ile) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 6, 2019
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:: RCV002350395.2

Allele description [Variation Report for NM_000166.6(GJB1):c.565G>A (p.Val189Ile)]

NM_000166.6(GJB1):c.565G>A (p.Val189Ile)

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.565G>A (p.Val189Ile)

HGVS:

NC_000023.11:g.71224272G>A
NG_008357.1:g.14061G>A
NM_000166.6:c.565G>AMANE SELECT
NM_001097642.3:c.565G>A
NP_000157.1:p.Val189Ile
NP_001091111.1:p.Val189Ile
LRG_245t2:c.565G>A
LRG_245:g.14061G>A
LRG_245p2:p.Val189Ile
NC_000023.10:g.70444122G>A
NM_000166.5:c.565G>A

Protein change:

V189I

Links:

dbSNP: rs770116247

NCBI 1000 Genomes Browser:

rs770116247

Molecular consequence:

NM_000166.6:c.565G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001097642.3:c.565G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002652074	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 6, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002652074

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 6, 2019)

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

Details of each submission

From Ambry Genetics, SCV002652074.2

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

Description

The p.V189I variant (also known as c.565G>A), located in coding exon 1 of the GJB1 gene, results from a G to A substitution at nucleotide position 565. The valine at codon 189 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and isoleucine is the reference amino acid in other vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Sep 29, 2024

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