NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter) AND CNGB3-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 29, 2024
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV004732910.1

Allele description [Variation Report for NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)]

NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)

Gene:

CNGB3:cyclic nucleotide gated channel subunit beta 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.3

Genomic location:

Preferred name:

NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)

HGVS:

NC_000008.11:g.86579224G>A
NG_016980.1:g.169452C>T
NM_019098.5:c.1810C>TMANE SELECT
NP_061971.3:p.Arg604Ter
NP_061971.3:p.Arg604Ter
NC_000008.10:g.87591452G>A
NM_019098.4:c.1810C>T

Protein change:

R604*

Links:

dbSNP: rs200805087

NCBI 1000 Genomes Browser:

rs200805087

Molecular consequence:

NM_019098.5:c.1810C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: CNGB3-related disorder
Synonyms:: CNGB3-Related Disorders; CNGB3-related condition
Identifiers:: MedGen: CN239340

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005366096	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Pathogenic (Aug 29, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005366096

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Pathogenic
(Aug 29, 2024)

germline

clinical testing

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 PreventionGenetics, part of Exact Sciences, SCV005366096.1

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

Description

The CNGB3 c.1810C>T variant is predicted to result in premature protein termination (p.Arg604*). This variant has been reported in the homozygous state in individuals with achromatopsia or unspecified retinal disease (Table S2, Carss et al. 2017. PubMed ID: 28041643; Amaral et al. 2023. PubMed ID: 37372476; Table S1, Lin et al. 2024. PubMed ID: 38219857; Hizem et al. 2024. PubMed ID: 37158316). This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD. Nonsense variants in CNGB3 are an established mechanism of disease. This variant is interpreted as pathogenic.

#	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: Oct 13, 2024

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