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NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) AND Achromatopsia

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Mar 20, 2018
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:
RCV000273159.3

Allele description [Variation Report for NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys)]

NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys)

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.682G>A (p.Glu228Lys)
HGVS:
  • NC_000002.12:g.98395852G>A
  • NG_009097.1:g.54698G>A
  • NM_001079878.2:c.628G>A
  • NM_001298.3:c.682G>AMANE SELECT
  • NP_001073347.1:p.Glu210Lys
  • NP_001289.1:p.Glu228Lys
  • NP_001289.1:p.Glu228Lys
  • NC_000002.11:g.99012315G>A
  • NM_001298.2:c.682G>A
  • Q16281:p.Glu228Lys
Protein change:
E210K
Links:
UniProtKB: Q16281#VAR_047574; dbSNP: rs147415641
NCBI 1000 Genomes Browser:
rs147415641
Molecular consequence:
  • NM_001079878.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001298.3:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Achromatopsia
Synonyms:
Rod monochromatism
Identifiers:
MONDO: MONDO:0018852; MedGen: C0152200; Human Phenotype Ontology: HP:0011516

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000700218Molecular Genetics Laboratory, Institute for Ophthalmic Research
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Mar 20, 2018)
germlineresearch

PubMed (2)
[See all records that cite these PMIDs]

SCV001161005Sharon lab, Hadassah-Hebrew University Medical Center
no assertion criteria provided
Likely pathogenic
(Jun 23, 2019)
inheritedresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.

Thiadens AA, Roosing S, Collin RW, van Moll-Ramirez N, van Lith-Verhoeven JJ, van Schooneveld MJ, den Hollander AI, van den Born LI, Hoyng CB, Cremers FP, Klaver CC.

Ophthalmology. 2010 Apr;117(4):825-30.e1. doi: 10.1016/j.ophtha.2009.09.008. Epub 2010 Jan 15.

PubMed [citation]
PMID:
20079539

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Molecular Genetics Laboratory, Institute for Ophthalmic Research, SCV000700218.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001161005.1

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

Last Updated: Jul 15, 2024