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NM_019098.4(CNGB3):c.1833C>T (p.His611=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 11, 2020
Accession:
VCV000283824.6
Variation ID:
283824
Description:
single nucleotide variant
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NM_019098.4(CNGB3):c.1833C>T (p.His611=)

Allele ID
268061
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q21.3
Genomic location
8: 86579201 (GRCh38) GRCh38 UCSC
8: 87591429 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.87591429G>A
NC_000008.11:g.86579201G>A
NG_016980.1:g.169475C>T
NM_019098.4:c.1833C>T NP_061971.3:p.His611= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000008.11:86579200:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00009
Exome Aggregation Consortium (ExAC) 0.00008
The Genome Aggregation Database (gnomAD) 0.00013
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
Trans-Omics for Precision Medicine (TOPMed) 0.00011
Links
ClinGen: CA4799884
dbSNP: rs368787128
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001164345.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001164346.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 11, 2020 RCV000259449.4
Likely benign 1 no assertion criteria provided Sep 16, 2020 RCV001272479.1
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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
557 586

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 20, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000336154.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Achromatopsia 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001326468.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Stargardt disease 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001326469.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Nov 11, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001057887.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Achromatopsia
Allele origin: germline
Natera, Inc.
Accession: SCV001454541.1
Submitted: (Dec 28, 2020)
Evidence details

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CNGB3 - - - -

Text-mined citations for rs368787128...

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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 Sep 07, 2021