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NM_001168407.2(RIMS1):c.2984G>A (p.Arg995Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 13, 2020
Accession:
VCV001052600.1
Variation ID:
1052600
Description:
single nucleotide variant
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NM_001168407.2(RIMS1):c.2984G>A (p.Arg995Gln)

Allele ID
1044345
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q13
Genomic location
6: 72400659 (GRCh38) GRCh38 UCSC
6: 73110361 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.73110361G>A
NC_000006.12:g.72400659G>A
NM_001168407.2:c.2984G>A NP_001161879.1:p.Arg995Gln missense
... more HGVS
Protein change
R1010Q, R1014Q, R1024Q, R1027Q, R1033Q, R1056Q, R1057Q, R1059Q, R1675Q, R202Q, R719Q, R743Q, R748Q, R749Q, R769Q, R772Q, R773Q, R776Q, R777Q, R784Q, R785Q, R793Q, R799Q, R800Q, R801Q, R809Q, R811Q, R823Q, R824Q, R839Q, R849Q, R851Q, R864Q, R884Q, R885Q, R890Q, R891Q, R892Q, R905Q, R906Q, R911Q, R915Q, R920Q, R921Q, R942Q, R944Q, R948Q, R949Q, R955Q, R962Q, R965Q, R971Q, R972Q, R975Q, R976Q, R978Q, R981Q, R982Q, R988Q, R995Q, R996Q, R997Q, R998Q
Other names
-
Canonical SPDI
NC_000006.12:72400658:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 13, 2020 RCV001360818.1
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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 13, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001556761.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with glutamine at codon 1675 of the RIMS1 protein (p.Arg1675Gln). The arginine residue is highly conserved and there is a … (more)

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.

Record last updated Apr 18, 2021