NM_014989.7(RIMS1):c.4259T>C (p.Val1420Ala) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 13, 2023
- 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:
- RCV001861291.4
Allele description [Variation Report for NM_014989.7(RIMS1):c.4259T>C (p.Val1420Ala)]
NM_014989.7(RIMS1):c.4259T>C (p.Val1420Ala)
- 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.4259T>C (p.Val1420Ala)
- HGVS:
- NC_000006.12:g.72333728T>C
- NG_016209.1:g.451782T>C
- NM_001168407.2:c.2219T>C
- NM_001168408.2:c.1741+41682T>C
- NM_001168409.2:c.1570+41682T>C
- NM_001168410.2:c.1768+41682T>C
- NM_001350414.2:c.2180T>C
- NM_001350415.2:c.2276T>C
- NM_001350416.2:c.2225T>C
- NM_001350417.2:c.1813+41682T>C
- NM_001350418.2:c.2198T>C
- NM_001350419.2:c.1585+41682T>C
- NM_001350420.2:c.2333T>C
- NM_001350421.2:c.2078T>C
- NM_001350422.2:c.1810+41682T>C
- NM_001350423.2:c.1967T>C
- NM_001350424.2:c.1672+41682T>C
- NM_001350425.2:c.2177T>C
- NM_001350426.2:c.1660+41682T>C
- NM_001350427.2:c.1738+41682T>C
- NM_001350428.2:c.1744+41682T>C
- NM_001350429.2:c.1997T>C
- NM_001350430.2:c.1741+41682T>C
- NM_001350431.2:c.2315T>C
- NM_001350432.2:c.1648+41682T>C
- NM_001350433.2:c.2306T>C
- NM_001350434.2:c.1888+41682T>C
- NM_001350435.2:c.2168T>C
- NM_001350436.2:c.2411T>C
- NM_001350437.2:c.2162T>C
- NM_001350438.2:c.1993+41682T>C
- NM_001350439.2:c.2150T>C
- NM_001350440.2:c.1657+41682T>C
- NM_001350441.2:c.2147T>C
- NM_001350442.2:c.1996+41682T>C
- NM_001350443.2:c.2120T>C
- NM_001350444.2:c.1994T>C
- NM_001350445.2:c.1894+41682T>C
- NM_001350446.2:c.2405T>C
- NM_001350447.2:c.2066T>C
- NM_001350448.2:c.2222T>C
- NM_001350449.2:c.1720+41682T>C
- NM_001350450.2:c.1669+41682T>C
- NM_001350454.2:c.2129T>C
- NM_001350455.2:c.1588+41682T>C
- NM_001350456.2:c.2402T>C
- NM_001350457.2:c.2159T>C
- NM_001350458.2:c.2228T>C
- NM_001350459.2:c.2081T>C
- NM_001350460.2:c.2099T>C
- NM_001350461.2:c.1949T>C
- NM_001350462.2:c.2264T>C
- NM_001350463.2:c.1904T>C
- NM_001350464.2:c.1907T>C
- NM_001350465.2:c.1498+41682T>C
- NM_001350466.2:c.1910T>C
- NM_001350467.2:c.1826T>C
- NM_001350468.2:c.1751T>C
- NM_001350469.2:c.1979T>C
- NM_001350470.2:c.1774+41682T>C
- NM_001350471.2:c.2060T>C
- NM_001350472.2:c.1693+41682T>C
- NM_001350473.2:c.1696+41682T>C
- NM_001350474.2:c.1952T>C
- NM_014989.7:c.4259T>CMANE SELECT
- NP_001161879.1:p.Val740Ala
- NP_001337343.1:p.Val727Ala
- NP_001337344.1:p.Val759Ala
- NP_001337345.1:p.Val742Ala
- NP_001337347.1:p.Val733Ala
- NP_001337349.1:p.Val778Ala
- NP_001337350.1:p.Val693Ala
- NP_001337352.1:p.Val656Ala
- NP_001337354.1:p.Val726Ala
- NP_001337358.1:p.Val666Ala
- NP_001337360.1:p.Val772Ala
- NP_001337362.1:p.Val769Ala
- NP_001337364.1:p.Val723Ala
- NP_001337365.1:p.Val804Ala
- NP_001337366.1:p.Val721Ala
- NP_001337368.1:p.Val717Ala
- NP_001337370.1:p.Val716Ala
- NP_001337372.1:p.Val707Ala
- NP_001337373.1:p.Val665Ala
- NP_001337375.1:p.Val802Ala
- NP_001337376.1:p.Val689Ala
- NP_001337377.1:p.Val741Ala
- NP_001337383.1:p.Val710Ala
- NP_001337385.1:p.Val801Ala
- NP_001337386.1:p.Val720Ala
- NP_001337387.1:p.Val743Ala
- NP_001337388.1:p.Val694Ala
- NP_001337389.1:p.Val700Ala
- NP_001337390.1:p.Val650Ala
- NP_001337391.1:p.Val755Ala
- NP_001337392.1:p.Val635Ala
- NP_001337393.1:p.Val636Ala
- NP_001337395.1:p.Val637Ala
- NP_001337396.1:p.Val609Ala
- NP_001337397.1:p.Val584Ala
- NP_001337398.1:p.Val660Ala
- NP_001337400.1:p.Val687Ala
- NP_001337403.1:p.Val651Ala
- NP_055804.2:p.Val1420Ala
- NP_055804.2:p.Val1420Ala
- NC_000006.11:g.73043431T>C
- NM_014989.5:c.4259T>C
This HGVS expression did not pass validation- Protein change:
- V1420A
- Links:
- dbSNP: rs373553229
- NCBI 1000 Genomes Browser:
- rs373553229
- Molecular consequence:
- NM_001168408.2:c.1741+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001168409.2:c.1570+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001168410.2:c.1768+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350417.2:c.1813+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350419.2:c.1585+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350422.2:c.1810+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350424.2:c.1672+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350426.2:c.1660+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350427.2:c.1738+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350428.2:c.1744+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350430.2:c.1741+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350432.2:c.1648+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350434.2:c.1888+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350438.2:c.1993+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350440.2:c.1657+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350442.2:c.1996+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350445.2:c.1894+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350449.2:c.1720+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350450.2:c.1669+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350455.2:c.1588+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350465.2:c.1498+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350470.2:c.1774+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350472.2:c.1693+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350473.2:c.1696+41682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001168407.2:c.2219T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350414.2:c.2180T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350415.2:c.2276T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350416.2:c.2225T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350418.2:c.2198T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350420.2:c.2333T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350421.2:c.2078T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350423.2:c.1967T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350425.2:c.2177T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350429.2:c.1997T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350431.2:c.2315T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350433.2:c.2306T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350435.2:c.2168T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350436.2:c.2411T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350437.2:c.2162T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350439.2:c.2150T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350441.2:c.2147T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350443.2:c.2120T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350444.2:c.1994T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350446.2:c.2405T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350447.2:c.2066T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350448.2:c.2222T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350454.2:c.2129T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350456.2:c.2402T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350457.2:c.2159T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350458.2:c.2228T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350459.2:c.2081T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350460.2:c.2099T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350461.2:c.1949T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350462.2:c.2264T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350463.2:c.1904T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350464.2:c.1907T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350466.2:c.1910T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350467.2:c.1826T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350468.2:c.1751T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350469.2:c.1979T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350471.2:c.2060T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350474.2:c.1952T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_014989.7:c.4259T>C - missense variant - [Sequence Ontology: SO:0001583]
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 |
---|---|---|---|---|---|---|
SCV002251400 | Labcorp Genetics (formerly Invitae), Labcorp | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Uncertain significance (Dec 13, 2023) | 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. doi: 10.1038/s41436-019-0624-9.
- PMID:
- 28492532
- PMCID:
- PMC5632818
Details of each submission
From Labcorp Genetics (formerly Invitae), Labcorp, SCV002251400.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1420 of the RIMS1 protein (p.Val1420Ala). This variant is present in population databases (rs373553229, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with RIMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 357859). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
# | 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: Sep 29, 2024