NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) 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:: RCV000596449.3

Allele description [Variation Report for NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys)]

NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys)

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.829C>T (p.Arg277Cys)

HGVS:

NC_000002.12:g.98395999C>T
NG_009097.1:g.54845C>T
NM_001079878.2:c.775C>T
NM_001298.3:c.829C>TMANE SELECT
NP_001073347.1:p.Arg259Cys
NP_001289.1:p.Arg277Cys
NP_001289.1:p.Arg277Cys
NC_000002.11:g.99012462C>T
NM_001298.2:c.829C>T
Q16281:p.Arg277Cys

Protein change:

R259C; ARG277CYS

Links:

UniProtKB: Q16281#VAR_047579; OMIM: 600053.0009; dbSNP: rs104893620

NCBI 1000 Genomes Browser:

rs104893620

Molecular consequence:

NM_001079878.2:c.775C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001298.3:c.829C>T - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000700220	Molecular Genetics Laboratory, Institute for Ophthalmic Research	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 20, 2018)	germline	research	PubMed (1) [See all records that cite this PMID]
SCV001161007	Sharon lab, Hadassah-Hebrew University Medical Center	no assertion criteria provided	Pathogenic (Jun 23, 2019)	inherited	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000700220

Molecular Genetics Laboratory, Institute for Ophthalmic Research

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 20, 2018)

germline

research

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

SCV001161007

Sharon lab, Hadassah-Hebrew University Medical Center

no assertion criteria provided

Pathogenic
(Jun 23, 2019)

inherited

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

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, SCV000700220.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001161007.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 12, 2024

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