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NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del) AND Achromatopsia

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Jun 23, 2019
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:
RCV000786011.2

Allele description [Variation Report for NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del)]

NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del)

Gene:
CNGA3:cyclic nucleotide gated channel subunit alpha 3 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2q11.2
Genomic location:
Preferred name:
NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del)
HGVS:
  • NC_000002.12:g.98396104ATC[2]
  • NG_009097.1:g.54950ATC[2]
  • NM_001079878.2:c.880ATC[2]
  • NM_001298.3:c.934ATC[2]MANE SELECT
  • NP_001073347.1:p.Ile296del
  • NP_001289.1:p.Ile314del
  • NC_000002.11:g.99012565_99012567del
  • NC_000002.11:g.99012567ATC[2]
  • NM_001298.2:c.940_942del
  • NM_001298.2:c.940_942delATC
Protein change:
I296del
Links:
dbSNP: rs777878533
NCBI 1000 Genomes Browser:
rs777878533
Molecular consequence:
  • NM_001079878.2:c.880ATC[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001298.3:c.934ATC[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000924651Molecular Genetics Laboratory, Institute for Ophthalmic Research
no assertion criteria provided
Likely pathogenic
(Dec 13, 2017)
inheritedresearch

SCV001161010Sharon lab, Hadassah-Hebrew University Medical Center
no assertion criteria provided
Pathogenic
(Jun 23, 2019)
inheritedresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Molecular Genetics Laboratory, Institute for Ophthalmic Research, SCV000924651.1

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

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001161010.1

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

Last Updated: Jun 23, 2024