NM_014989.7(RIMS1):c.1956A>G (p.Ala652=) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 9, 2022
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV001234355.7
Allele description [Variation Report for NM_014989.7(RIMS1):c.1956A>G (p.Ala652=)]
NM_014989.7(RIMS1):c.1956A>G (p.Ala652=)
- Gene:
- RIMS1:regulating synaptic membrane exocytosis 1 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 6q13
- Genomic location:
- Preferred name:
- NM_014989.7(RIMS1):c.1956A>G (p.Ala652=)
- HGVS:
- NC_000006.12:g.72237921A>G
- NG_016209.1:g.355975A>G
- NM_001168407.2:c.378A>G
- NM_001168408.2:c.378A>G
- NM_001168409.2:c.135A>G
- NM_001168410.2:c.333A>G
- NM_001350414.2:c.378A>G
- NM_001350415.2:c.378A>G
- NM_001350416.2:c.378A>G
- NM_001350417.2:c.378A>G
- NM_001350418.2:c.378A>G
- NM_001350419.2:c.378A>G
- NM_001350420.2:c.378A>G
- NM_001350421.2:c.309A>G
- NM_001350422.2:c.378A>G
- NM_001350423.2:c.378A>G
- NM_001350424.2:c.309A>G
- NM_001350425.2:c.378A>G
- NM_001350426.2:c.378A>G
- NM_001350427.2:c.378A>G
- NM_001350428.2:c.309A>G
- NM_001350429.2:c.378A>G
- NM_001350430.2:c.309A>G
- NM_001350431.2:c.378A>G
- NM_001350432.2:c.378A>G
- NM_001350433.2:c.378A>G
- NM_001350434.2:c.378A>G
- NM_001350435.2:c.378A>G
- NM_001350436.2:c.378A>G
- NM_001350437.2:c.309A>G
- NM_001350438.2:c.378A>G
- NM_001350439.2:c.378A>G
- NM_001350440.2:c.378A>G
- NM_001350441.2:c.378A>G
- NM_001350442.2:c.378A>G
- NM_001350443.2:c.378A>G
- NM_001350444.2:c.378A>G
- NM_001350445.2:c.378A>G
- NM_001350446.2:c.378A>G
- NM_001350447.2:c.378A>G
- NM_001350448.2:c.378A>G
- NM_001350449.2:c.378A>G
- NM_001350450.2:c.309A>G
- NM_001350452.2:c.378A>G
- NM_001350454.2:c.378A>G
- NM_001350455.2:c.378A>G
- NM_001350456.2:c.378A>G
- NM_001350457.2:c.378A>G
- NM_001350458.2:c.378A>G
- NM_001350459.2:c.309A>G
- NM_001350460.2:c.378A>G
- NM_001350461.2:c.135A>G
- NM_001350462.2:c.309A>G
- NM_001350463.2:c.135A>G
- NM_001350464.2:c.135A>G
- NM_001350465.2:c.135A>G
- NM_001350466.2:c.135A>G
- NM_001350467.2:c.135A>G
- NM_001350468.2:c.135A>G
- NM_001350469.2:c.135A>G
- NM_001350470.2:c.333A>G
- NM_001350471.2:c.309A>G
- NM_001350472.2:c.333A>G
- NM_001350473.2:c.333A>G
- NM_001350474.2:c.333A>G
- NM_014989.7:c.1956A>GMANE SELECT
- NP_001161879.1:p.Ala126=
- NP_001161880.1:p.Ala126=
- NP_001161881.1:p.Ala45=
- NP_001161882.1:p.Ala111=
- NP_001337343.1:p.Ala126=
- NP_001337344.1:p.Ala126=
- NP_001337345.1:p.Ala126=
- NP_001337346.1:p.Ala126=
- NP_001337347.1:p.Ala126=
- NP_001337348.1:p.Ala126=
- NP_001337349.1:p.Ala126=
- NP_001337350.1:p.Ala103=
- NP_001337351.1:p.Ala126=
- NP_001337352.1:p.Ala126=
- NP_001337353.1:p.Ala103=
- NP_001337354.1:p.Ala126=
- NP_001337355.1:p.Ala126=
- NP_001337356.1:p.Ala126=
- NP_001337357.1:p.Ala103=
- NP_001337358.1:p.Ala126=
- NP_001337359.1:p.Ala103=
- NP_001337360.1:p.Ala126=
- NP_001337361.1:p.Ala126=
- NP_001337362.1:p.Ala126=
- NP_001337363.1:p.Ala126=
- NP_001337364.1:p.Ala126=
- NP_001337365.1:p.Ala126=
- NP_001337366.1:p.Ala103=
- NP_001337367.1:p.Ala126=
- NP_001337368.1:p.Ala126=
- NP_001337369.1:p.Ala126=
- NP_001337370.1:p.Ala126=
- NP_001337371.1:p.Ala126=
- NP_001337372.1:p.Ala126=
- NP_001337373.1:p.Ala126=
- NP_001337374.1:p.Ala126=
- NP_001337375.1:p.Ala126=
- NP_001337376.1:p.Ala126=
- NP_001337377.1:p.Ala126=
- NP_001337378.1:p.Ala126=
- NP_001337379.1:p.Ala103=
- NP_001337381.1:p.Ala126=
- NP_001337383.1:p.Ala126=
- NP_001337384.1:p.Ala126=
- NP_001337385.1:p.Ala126=
- NP_001337386.1:p.Ala126=
- NP_001337387.1:p.Ala126=
- NP_001337388.1:p.Ala103=
- NP_001337389.1:p.Ala126=
- NP_001337390.1:p.Ala45=
- NP_001337391.1:p.Ala103=
- NP_001337392.1:p.Ala45=
- NP_001337393.1:p.Ala45=
- NP_001337394.1:p.Ala45=
- NP_001337395.1:p.Ala45=
- NP_001337396.1:p.Ala45=
- NP_001337397.1:p.Ala45=
- NP_001337398.1:p.Ala45=
- NP_001337399.1:p.Ala111=
- NP_001337400.1:p.Ala103=
- NP_001337401.1:p.Ala111=
- NP_001337402.1:p.Ala111=
- NP_001337403.1:p.Ala111=
- NP_055804.2:p.Ala652=
- NP_055804.2:p.Ala652=
- NC_000006.11:g.72947624A>G
- NM_014989.5:c.1956A>G
This HGVS expression did not pass validation- Links:
- dbSNP: rs764354585
- NCBI 1000 Genomes Browser:
- rs764354585
- Molecular consequence:
- NM_001168407.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001168408.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001168409.2:c.135A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001168410.2:c.333A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350414.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350415.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350416.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350417.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350418.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350419.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350420.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350421.2:c.309A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350422.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350423.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350424.2:c.309A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350425.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350426.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350427.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350428.2:c.309A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350429.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350430.2:c.309A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350431.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350432.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350433.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350434.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350435.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350436.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350437.2:c.309A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350438.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350439.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350440.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350441.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350442.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350443.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350444.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350445.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350446.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350447.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350448.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350449.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350450.2:c.309A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350452.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350454.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350455.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350456.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350457.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350458.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350459.2:c.309A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350460.2:c.378A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350461.2:c.135A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350462.2:c.309A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350463.2:c.135A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350464.2:c.135A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350465.2:c.135A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350466.2:c.135A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350467.2:c.135A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350468.2:c.135A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350469.2:c.135A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350470.2:c.333A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350471.2:c.309A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350472.2:c.333A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350473.2:c.333A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001350474.2:c.333A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_014989.7:c.1956A>G - synonymous variant - [Sequence Ontology: SO:0001819]
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001406995 | Invitae | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Uncertain significance (Mar 9, 2022) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.
- PMID:
- 28492532
- PMCID:
- PMC5632818
Details of each submission
From Invitae, SCV001406995.5
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
This variant has not been reported in the literature in individuals affected with RIMS1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 960771). This variant is present in population databases (rs764354585, gnomAD 0.0009%). This sequence change affects codon 652 of the RIMS1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RIMS1 protein. It affects a nucleotide within the consensus splice site.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Feb 20, 2024