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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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002652074Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 6, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002652074.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024