Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter)

Help
Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Feb 10, 2021)
Last evaluated:
Oct 3, 2020
Accession:
VCV000005223.6
Variation ID:
5223
Description:
single nucleotide variant
Help

NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter)

Allele ID
20262
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q21.3
Genomic location
8: 86668055 (GRCh38) GRCh38 UCSC
8: 87680283 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.11:g.86668055G>A
NG_016980.1:g.80621C>T
NM_019098.5:c.607C>T MANE Select NP_061971.3:p.Arg203Ter nonsense
... more HGVS
Protein change
R203*
Other names
CNGB3, 607C-T, ARG203TER
Canonical SPDI
NC_000008.11:86668054:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
ClinGen: CA253441
OMIM: 605080.0004
dbSNP: rs267606739
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 4 criteria provided, multiple submitters, no conflicts Oct 11, 2019 RCV000005533.6
Pathogenic 1 criteria provided, single submitter Oct 3, 2020 RCV001068378.2
Pathogenic 1 criteria provided, single submitter Apr 13, 2019 RCV001074242.1
Pathogenic 1 no assertion criteria provided Sep 16, 2020 RCV001272489.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CNGB3 - - GRCh38
GRCh37
561 590

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 14, 2014)
criteria provided, single submitter
Method: literature only
Achromatopsia 3
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000220887.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (3)
Pathogenic
(Apr 13, 2019)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001239815.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Pathogenic
(Oct 11, 2019)
criteria provided, single submitter
Method: clinical testing
Achromatopsia 3
Allele origin: maternal
Baylor Genetics
Study: CSER-TexasKidsCanSeq
Accession: SCV001482634.1
Submitted: (Feb 10, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. The c.607C>T (p.R203*) variant has been previously reported as pathogenic [PMID 10958649, … (more)
Pathogenic
(Oct 03, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001233487.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change creates a premature translational stop signal (p.Arg203*) in the CNGB3 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Sep 01, 2000)
no assertion criteria provided
Method: literature only
ACHROMATOPSIA 3
Allele origin: germline
OMIM
Accession: SCV000025715.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Pathogenic
(Mar 27, 2017)
no assertion criteria provided
Method: research
ACHM3
Allele origin: germline
Molecular Genetics Laboratory,Institute for Ophthalmic Research
Accession: SCV000575824.1
Submitted: (Apr 06, 2017)
Evidence details
Publications
PubMed (1)
Pathogenic
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Achromatopsia
Allele origin: germline
Natera, Inc.
Accession: SCV001454555.1
Submitted: (Dec 28, 2020)
Evidence details

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. Porto FBO Genes 2017 PMID: 29186038
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. Mayer AK Human mutation 2017 PMID: 28795510
Identifying mutations in Tunisian families with retinal dystrophy. Habibi I Scientific reports 2016 PMID: 27874104
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Xiong HY Science (New York, N.Y.) 2015 PMID: 25525159
CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone function. Zein WM Investigative ophthalmology & visual science 2014 PMID: 25205868
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Kohl S European journal of human genetics : EJHG 2005 PMID: 15657609
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Kohl S Human molecular genetics 2000 PMID: 10958649

Text-mined citations for rs267606739...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021