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NM_014989.7(RIMS1):c.4391G>C (p.Ser1464Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 30, 2020
Accession:
VCV001038133.1
Variation ID:
1038133
Description:
single nucleotide variant
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NM_014989.7(RIMS1):c.4391G>C (p.Ser1464Thr)

Allele ID
1027404
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q13
Genomic location
6: 72390622 (GRCh38) GRCh38 UCSC
6: 73100324 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.73100324G>C
NC_000006.12:g.72390622G>C
NG_016209.1:g.508675G>C
... more HGVS
Protein change
S508T, S558T, S582T, S590T, S628T, S653T, S673T, S681T, S700T, S737T, S754T, S771T, S784T, S786T, S803T, S813T, S846T, S532T, S538T, S588T, S612T, S613T, S694T, S709T, S760T, S764T, S767T, S770T, S777T, S787T, S822T, S1464T, S562T, S565T, S573T, S574T, S598T, S640T, S679T, S695T, S704T, S731T, S733T, S738T, S761T, S765T, S845T, S848T, S537T, S561T, S566T, S589T, S600T, S638T, S674T, S680T, S710T, S744T, S751T, S785T, S799T, S816T
Other names
-
Canonical SPDI
NC_000006.12:72390621:G:C
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 Mar 30, 2020 RCV001341403.1
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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
(Mar 30, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001535275.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces serine with threonine at codon 1464 of the RIMS1 protein (p.Ser1464Thr). The serine 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 Oct 24, 2021