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NM_001298.3(CNGA3):c.1519del (p.Asp507fs) AND Achromatopsia 2

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jun 4, 2021
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:
RCV001587382.2

Allele description [Variation Report for NM_001298.3(CNGA3):c.1519del (p.Asp507fs)]

NM_001298.3(CNGA3):c.1519del (p.Asp507fs)

Gene:
CNGA3:cyclic nucleotide gated channel subunit alpha 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q11.2
Genomic location:
Preferred name:
NM_001298.3(CNGA3):c.1519del (p.Asp507fs)
HGVS:
  • NC_000002.12:g.98396689del
  • NG_009097.1:g.55535del
  • NM_001079878.2:c.1465del
  • NM_001298.3:c.1519delMANE SELECT
  • NP_001073347.1:p.Asp489fs
  • NP_001289.1:p.Asp507fs
  • NC_000002.11:g.99013149del
  • NC_000002.11:g.99013152del
Protein change:
D489fs
Links:
dbSNP: rs745592705
NCBI 1000 Genomes Browser:
rs745592705
Molecular consequence:
  • NM_001079878.2:c.1465del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001298.3:c.1519del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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
SCV001571302Molecular Genetics Laboratory, Institute for Ophthalmic Research
no assertion criteria provided
Likely pathogenic
(Apr 15, 2021)
germlineresearch

SCV001816084DBGen Ocular Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Jun 4, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch
unspecifiedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

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, SCV001571302.1

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

From DBGen Ocular Genomics, SCV001816084.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1unspecified1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Feb 20, 2024