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NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 23, 2019
Accession:
VCV000189190.5
Variation ID:
189190
Description:
single nucleotide variant
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NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter)

Allele ID
186765
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q21.3
Genomic location
8: 86643810 (GRCh38) GRCh38 UCSC
8: 87656038 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.87656038C>T
NM_019098.4:c.1119G>A NP_061971.3:p.Trp373Ter nonsense
NC_000008.11:g.86643810C>T
... more HGVS
Protein change
W373*
Other names
-
Canonical SPDI
NC_000008.11:86643809:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA274480
dbSNP: rs786204762
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Oct 23, 2019 RCV000255345.3
Likely pathogenic 2 criteria provided, single submitter Feb 23, 2015 RCV000169624.2
Pathogenic 1 criteria provided, single submitter Aug 10, 2017 RCV001074476.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CNGB3 - - GRCh38
GRCh37
560 589

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 23, 2015)
criteria provided, single submitter
Method: literature only
Achromatopsia 3
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000221152.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (1)
Pathogenic
(Apr 14, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000322407.6
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The W373X pathogenic variant in the CNGB3 gene has been reported previously in the homozygous state in an individual with achromatopsia (Kohl et al., 2005). … (more)
Pathogenic
(Aug 10, 2017)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001240061.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Pathogenic
(Oct 23, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001383089.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Trp373*) in the CNGB3 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Mar 27, 2017)
no assertion criteria provided
Method: research
ACHM3
Allele origin: germline
Molecular Genetics Laboratory,Institute for Ophthalmic Research
Accession: SCV000575831.1
Submitted: (Apr 06, 2017)
Evidence details
Publications
PubMed (1)

Functional evidence

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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

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Title Author Journal Year Link
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. Mayer AK Human mutation 2017 PMID: 28795510
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Kohl S European journal of human genetics : EJHG 2005 PMID: 15657609

Text-mined citations for rs786204762...

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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 Oct 30, 2021