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NM_019098.5(CNGB3):c.1366del (p.Arg456fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Apr 6, 2017)
Last evaluated:
May 18, 2016
Accession:
VCV000370933.1
Variation ID:
370933
Description:
1bp deletion
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NM_019098.5(CNGB3):c.1366del (p.Arg456fs)

Allele ID
357646
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
8q21.3
Genomic location
8: 86629033 (GRCh38) GRCh38 UCSC
8: 87641261 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_019098.4:c.1366delC frameshift
NC_000008.10:g.87641262del
NC_000008.11:g.86629034del
... more HGVS
Protein change
R456fs
Other names
-
Canonical SPDI
NC_000008.11:86629032:GG:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16041192
dbSNP: rs1057516878
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 May 18, 2016 RCV000410652.2
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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
560 589

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 18, 2016)
criteria provided, single submitter
Method: clinical testing
Achromatopsia 3
Allele origin: unknown
Counsyl
Accession: SCV000486368.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (1)
Pathogenic
(Mar 27, 2017)
no assertion criteria provided
Method: research
ACHM3
Allele origin: unknown
Molecular Genetics Laboratory,Institute for Ophthalmic Research
Accession: SCV000575794.1
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
Antifungal activity of compounds targeting the Hsp90-calcineurin pathway against various mould species. Lamoth F The Journal of antimicrobial chemotherapy 2015 PMID: 25558076

Text-mined citations for rs1057516878...

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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 24, 2021