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- Classification Summary
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- Germline
- Conditions
- Submissions
- Functional Evidence
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NM_001297.5(CNGB1):c.3286G>A (p.Val1096Met)
Germline
Classification Help The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(4) Help Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001297.5(CNGB1):c.3286G>A (p.Val1096Met)
Variation ID: 852740 Accession: VCV000852740.8
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 16q21 16: 57888031 (GRCh38) [ NCBI UCSC ] 16: 57921935 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 15, 2020 May 1, 2024 Oct 1, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001297.5:c.3286G>A MANESelect Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001288.3:p.Val1096Met missense NM_001286130.2:c.3268G>A NP_001273059.1:p.Val1090Met missense NC_000016.10:g.57888031C>T NC_000016.9:g.57921935C>T NG_016351.1:g.88086G>A - Protein change
- V1096M, V1090M
- Other names
- -
- Canonical SPDI
- NC_000016.10:57888030:C:T
- Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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- Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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- Allele frequency Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00019
Trans-Omics for Precision Medicine (TOPMed) 0.00019
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00024
- Links
- dbSNP: rs376128303
- VarSome
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases. | Related variants | ||
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HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. | TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. | Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. | All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. | |||
CNGB1 | - | - | GRCh38 GRCh37 | 1256 | 1284 |
Conditions - Germline
Condition Help The condition for this variant-condition (RCV) record in ClinVar. | Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) | Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. | Last evaluated Help The most recent date that a submitter evaluated this variant for the condition. | Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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not provided | Uncertain significance (1) | Aug 16, 2022 | RCV001057416.4 | |
Retinal dystrophy | Uncertain significance (2) | Oct 1, 2023 | RCV001074430.3 | |
Inborn genetic diseases | Uncertain significance (1) | Nov 10, 2022 | RCV002553831.2 |
Submissions - Germline
Classification Help The submitted germline classification for each SCV record. (Last evaluated) | Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) | Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. | Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. | More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. | |
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Uncertain significance (Aug 16, 2022) | (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing | not provided Affected status: unknown Allele origin: germline | Invitae Accession: SCV001221908.4 | Comment: This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1096 of the CNGB1 protein (p.Val1096Met). … (more) This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1096 of the CNGB1 protein (p.Val1096Met). This variant is present in population databases (rs376128303, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CNGB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 852740). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CNGB1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less) | |
Uncertain significance (Feb 14, 2017) | (Blueprint Genetics Variant Classification Scheme) Method: clinical testing | Retinal dystrophy Affected status: yes Allele origin: germline | Blueprint Genetics Accession: SCV001240014.1 Comment: My Retina Tracker patient | | |
Uncertain significance (Oct 01, 2023) | Method: research | Retinal dystrophy Affected status: yes Allele origin: germline | Dept Of Ophthalmology, Nagoya University Accession: SCV004705105.1 | | |
Uncertain significance (Nov 10, 2022) | (Ambry Variant Classification Scheme 2023) Method: clinical testing | Inborn genetic diseases Affected status: unknown Allele origin: germline | Ambry Genetics Accession: SCV003528761.2 | Comment: The c.3286G>A (p.V1096M) alteration is located in exon 32 (coding exon 31) of the CNGB1 gene. This alteration results from a G to A substitution … (more) The c.3286G>A (p.V1096M) alteration is located in exon 32 (coding exon 31) of the CNGB1 gene. This alteration results from a G to A substitution at nucleotide position 3286, causing the valine (V) at amino acid position 1096 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less) |
Comment:
This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1096 of the CNGB1 protein (p.Val1096Met). This variant is present in population databases (rs376128303, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CNGB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 852740). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CNGB1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Comment:
The c.3286G>A (p.V1096M) alteration is located in exon 32 (coding exon 31) of the CNGB1 gene. This alteration results from a G to A substitution at nucleotide position 3286, causing the valine (V) at amino acid position 1096 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Germline Functional Evidence
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.
Comment:
This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1096 of the CNGB1 protein (p.Val1096Met). This variant is present in population databases (rs376128303, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CNGB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 852740). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CNGB1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Comment:
The c.3286G>A (p.V1096M) alteration is located in exon 32 (coding exon 31) of the CNGB1 gene. This alteration results from a G to A substitution at nucleotide position 3286, causing the valine (V) at amino acid position 1096 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Citations for germline classification of this variant
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There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar.
Text-mined citations for rs376128303 ...
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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 Jun 23, 2024
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