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NM_019098.5(CNGB3):c.1781+1del

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 24, 2020
Accession:
VCV000427707.3
Variation ID:
427707
Description:
1bp deletion
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NM_019098.5(CNGB3):c.1781+1del

Allele ID
417090
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
8q21.3
Genomic location
8: 86604092 (GRCh38) GRCh38 UCSC
8: 87616320 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_019098.4:c.1781+1del splice donor
NM_019098.4:c.1781+1delG
NC_000008.10:g.87616321del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000008.11:86604091:CC:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA645372463
dbSNP: rs1554607546
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Mar 24, 2017 RCV000497830.1
Pathogenic 1 criteria provided, single submitter Jul 24, 2020 RCV001046928.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CNGB3 - - GRCh38
GRCh37
561 590

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 24, 2017)
criteria provided, single submitter
Method: clinical testing
Achromatopsia 3
Allele origin: unknown
Counsyl
Accession: SCV000789904.1
Submitted: (Jul 10, 2018)
Evidence details
Pathogenic
(Jul 24, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001210853.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change affects a donor splice site in intron 15 of the CNGB3 gene. It is expected to disrupt RNA splicing and likely results … (more)
Pathogenic
(Mar 27, 2017)
no assertion criteria provided
Method: research
ACHM3
Allele origin: germline
Molecular Genetics Laboratory,Institute for Ophthalmic Research
Accession: SCV000575856.1
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
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547

Text-mined citations for rs1554607546...

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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 Nov 27, 2021