NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter) AND Abnormality of the eye

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 1, 2015
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:: RCV000504783.1

Allele description [Variation Report for NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)]

NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)

Gene:

CNGB3:cyclic nucleotide gated channel subunit beta 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.3

Genomic location:

Preferred name:

NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)

HGVS:

NC_000008.11:g.86579224G>A
NG_016980.1:g.169452C>T
NM_019098.5:c.1810C>TMANE SELECT
NP_061971.3:p.Arg604Ter
NP_061971.3:p.Arg604Ter
NC_000008.10:g.87591452G>A
NM_019098.4:c.1810C>T

Protein change:

R604*

Links:

dbSNP: rs200805087

NCBI 1000 Genomes Browser:

rs200805087

Molecular consequence:

NM_019098.5:c.1810C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Abnormality of the eye
Synonyms:: Globe disease
Identifiers:: MONDO: MONDO:0005328; MedGen: C4316870; Human Phenotype Ontology: HP:0000478

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000598864	NIHR Bioresource Rare Diseases, University of Cambridge	no assertion criteria provided	Likely pathogenic (Jan 1, 2015)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000598864

NIHR Bioresource Rare Diseases, University of Cambridge

no assertion criteria provided

Likely pathogenic
(Jan 1, 2015)

unknown

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
NA	unknown	yes	1	not provided	not provided	1	not provided	research

Citations

PubMed

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, et al.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

PubMed [citation]

PMID:: 28041643
PMCID:: PMC5223092

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV000598864.1

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

Description

Undetermined rare ocular disorder with frequency of less than eight patients

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

Last Updated: Oct 13, 2024

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