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NM_014989.5(RIMS1):c.4618+20dup

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000357861.3
Variation ID:
357861
Description:
1bp duplication
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NM_014989.5(RIMS1):c.4618+20dup

Allele ID
308648
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
6q13
Genomic location
6: 72392820-72392821 (GRCh38) GRCh38 UCSC
6: 73102522-73102523 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.73102532dup
NC_000006.12:g.72392830dup
NG_016209.1:g.510883dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:72392820:TTTTTTTTTT:TTTTTTTTTTT
Functional consequence
-
Global minor allele frequency (GMAF)
0.23922 (TTTTTTTTT)

Allele frequency
-
Links
ClinGen: CA3886559
dbSNP: rs113359739
Varsome
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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 Jun 14, 2016 RCV000386150.2
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV001516407.1
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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

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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: SCV000464685.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001724680.1
Submitted: (Jan 07, 2021)
Evidence details

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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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 rs113359739...

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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 Sep 29, 2021