Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_014989.5(RIMS1):c.4259T>C (p.Val1420Ala)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000357859.2
Variation ID:
357859
Description:
single nucleotide variant
Help

NM_014989.5(RIMS1):c.4259T>C (p.Val1420Ala)

Allele ID
303952
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q13
Genomic location
6: 72333728 (GRCh38) GRCh38 UCSC
6: 73043431 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.73043431T>C
NC_000006.12:g.72333728T>C
NG_016209.1:g.451782T>C
... more HGVS
Protein change
V1420A, V689A, V700A, V717A, V727A, V733A, V755A, V778A, V802A, V637A, V656A, V660A, V666A, V687A, V694A, V716A, V720A, V721A, V723A, V726A, V740A, V772A, V609A, V636A, V693A, V710A, V742A, V759A, V804A, V584A, V635A, V650A, V651A, V665A, V707A, V741A, V743A, V769A, V801A
Other names
-
Canonical SPDI
NC_000006.12:72333727:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00005
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00005
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00016
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
ClinGen: CA3886474
dbSNP: rs373553229
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000364281.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RIMS1 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
485 497

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Cone-Rod Dystrophy, Dominant
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000464682.2
Submitted: (Oct 18, 2016)
Evidence details

Functional evidence

Help
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

Help
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs373553229...

Help
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 29, 2021