NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) AND Achromatopsia 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 1998
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:: RCV000010084.7

Allele description [Variation Report for NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg)]

NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg)

Gene:

CNGA3:cyclic nucleotide gated channel subunit alpha 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q11.2

Genomic location:

Preferred name:

NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg)

HGVS:

NC_000002.12:g.98396839G>A
NG_009097.1:g.55685G>A
NM_001079878.2:c.1615G>A
NM_001298.3:c.1669G>AMANE SELECT
NP_001073347.1:p.Gly539Arg
NP_001289.1:p.Gly557Arg
NP_001289.1:p.Gly557Arg
NC_000002.11:g.99013302G>A
NM_001298.2:c.1669G>A
Q16281:p.Gly557Arg

Protein change:

G539R; GLY557ARG

Links:

UniProtKB: Q16281#VAR_010909; OMIM: 600053.0004; dbSNP: rs104893615

NCBI 1000 Genomes Browser:

rs104893615

Molecular consequence:

NM_001079878.2:c.1615G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001298.3:c.1669G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Achromatopsia 2 (ACHM2)
Synonyms:: COLORBLINDNESS, TOTAL; ROD MONOCHROMACY 2; ROD MONOCHROMATISM 2
Identifiers:: MONDO: MONDO:0009003; MedGen: C1857618; Orphanet: 49382; OMIM: 216900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030305	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 1998)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030305

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 1998)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.

Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B.

Nat Genet. 1998 Jul;19(3):257-9.

PubMed [citation]

PMID:: 9662398

Details of each submission

From OMIM, SCV000030305.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the gly557-to-arg (G557R) mutation in the CNGA3 gene that was found in compound heterozygous state in a patient with achromatopsia-2 by Kohl et al. (1998), see 600053.0003.

#	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		not provided	not provided	not provided	not provided

Last Updated: Jan 13, 2025

ClinVar

Relating variation to medicine