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NM_001297.4(CNGB1):c.2957A>T (p.Asn986Ile)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Feb 1, 2019)
Last evaluated:
Aug 25, 2017
Accession:
VCV000166891.2
Variation ID:
166891
Description:
single nucleotide variant
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NM_001297.4(CNGB1):c.2957A>T (p.Asn986Ile)

Allele ID
177287
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q21
Genomic location
16: 57901371 (GRCh38) GRCh38 UCSC
16: 57935275 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.57901371T>A
NC_000016.9:g.57935275T>A
NM_001297.4:c.2957A>T NP_001288.3:p.Asn986Ile missense
NG_016351.1:g.74746A>T
Protein change
N986I
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00119
Exome Aggregation Consortium (ExAC) 0.00110
1000 Genomes Project 0.00020
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00065
Trans-Omics for Precision Medicine (TOPMed) 0.00053
The Genome Aggregation Database (gnomAD) 0.00158
Links
dbSNP: rs201162411
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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 Apr 27, 2014 RCV000153040.3
Pathogenic 2 criteria provided, single submitter Aug 25, 2017 RCV000504912.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CNGB1 - - GRCh38
GRCh37
186 207

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 27, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000202494.7
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (2)
Other databases
http://www.egl-eurofins.com/em...
Pathogenic
(Aug 25, 2017)
criteria provided, single submitter
Method: clinical testing
Retinitis pigmentosa
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000398309.3
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (2)
Comment:
The CNGB1 c.2957A>T (p.Asn986Ile) missense variant has been reported in two studies in which it is found in six unrelated individuals with an autosomal recessive ... (more)
Likely pathogenic
(Jan 01, 2015)
no assertion criteria provided
Method: research
Retinitis pigmentosa
Allele origin: unknown
NIHR Bioresource Rare Diseases,University of Cambridge
Accession: SCV000598713.1
Submitted: (Aug 18, 2017)
Evidence details
Publications
PubMed (2)

Citations for this variant

Title Author Journal Year Link
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa. Hull S JAMA ophthalmology 2017 PMID: 28056120
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. Carss KJ American journal of human genetics 2017 PMID: 28041643
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Abu-Safieh L Genome research 2013 PMID: 23105016
Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa. Simpson DA Journal of medical genetics 2011 PMID: 21147909
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CNGB1 - - - -

Record last updated Jun 17, 2019