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NM_001298.3(CNGA3):c.592G>A (p.Glu198Lys) AND Achromatopsia 2

Germline classification:
Benign (2 submissions)
Last evaluated:
Apr 27, 2017
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:
RCV001140913.5

Allele description [Variation Report for NM_001298.3(CNGA3):c.592G>A (p.Glu198Lys)]

NM_001298.3(CNGA3):c.592G>A (p.Glu198Lys)

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.592G>A (p.Glu198Lys)
HGVS:
  • NC_000002.12:g.98391889G>A
  • NG_009097.1:g.50735G>A
  • NM_001079878.2:c.538G>A
  • NM_001298.3:c.592G>AMANE SELECT
  • NP_001073347.1:p.Glu180Lys
  • NP_001289.1:p.Glu198Lys
  • NP_001289.1:p.Glu198Lys
  • NC_000002.11:g.99008352G>A
  • NM_001298.2:c.592G>A
Protein change:
E180K
Links:
dbSNP: rs2271041
NCBI 1000 Genomes Browser:
rs2271041
Molecular consequence:
  • NM_001079878.2:c.538G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001298.3:c.592G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Achromatopsia 2 (ACHM2)
Synonyms:
Colorblindness, total; Rod monochromatism 2; Rod monochromacy 2
Identifiers:
MONDO: MONDO:0009003; MedGen: C1857618; Orphanet: 49382; OMIM: 216900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001301218Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)
Benign
(Apr 27, 2017)
germlineclinical testing

Citation Link,

SCV001571321Molecular Genetics Laboratory, Institute for Ophthalmic Research
no assertion criteria provided
Benign
(Apr 15, 2021)
germlineresearch

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001301218.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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

From Molecular Genetics Laboratory, Institute for Ophthalmic Research, SCV001571321.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024