NM_014989.7(RIMS1):c.1987C>A (p.Pro663Thr) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 9, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001236597.2

Allele description [Variation Report for NM_014989.7(RIMS1):c.1987C>A (p.Pro663Thr)]

NM_014989.7(RIMS1):c.1987C>A (p.Pro663Thr)

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.1987C>A (p.Pro663Thr)
HGVS:
  • NC_000006.12:g.72242343C>A
  • NG_016209.1:g.360397C>A
  • NM_001168407.2:c.409C>A
  • NM_001168408.2:c.409C>A
  • NM_001168409.2:c.166C>A
  • NM_001168410.2:c.364C>A
  • NM_001350414.2:c.409C>A
  • NM_001350415.2:c.409C>A
  • NM_001350416.2:c.409C>A
  • NM_001350417.2:c.409C>A
  • NM_001350418.2:c.409C>A
  • NM_001350419.2:c.409C>A
  • NM_001350420.2:c.409C>A
  • NM_001350421.2:c.340C>A
  • NM_001350422.2:c.409C>A
  • NM_001350423.2:c.409C>A
  • NM_001350424.2:c.340C>A
  • NM_001350425.2:c.409C>A
  • NM_001350426.2:c.409C>A
  • NM_001350427.2:c.409C>A
  • NM_001350428.2:c.340C>A
  • NM_001350429.2:c.409C>A
  • NM_001350430.2:c.340C>A
  • NM_001350431.2:c.409C>A
  • NM_001350432.2:c.409C>A
  • NM_001350433.2:c.409C>A
  • NM_001350434.2:c.409C>A
  • NM_001350435.2:c.409C>A
  • NM_001350436.2:c.409C>A
  • NM_001350437.2:c.340C>A
  • NM_001350438.2:c.409C>A
  • NM_001350439.2:c.409C>A
  • NM_001350440.2:c.409C>A
  • NM_001350441.2:c.409C>A
  • NM_001350442.2:c.409C>A
  • NM_001350443.2:c.409C>A
  • NM_001350444.2:c.409C>A
  • NM_001350445.2:c.409C>A
  • NM_001350446.2:c.409C>A
  • NM_001350447.2:c.409C>A
  • NM_001350448.2:c.409C>A
  • NM_001350449.2:c.409C>A
  • NM_001350450.2:c.340C>A
  • NM_001350452.2:c.409C>A
  • NM_001350454.2:c.409C>A
  • NM_001350455.2:c.409C>A
  • NM_001350456.2:c.409C>A
  • NM_001350457.2:c.409C>A
  • NM_001350458.2:c.409C>A
  • NM_001350459.2:c.340C>A
  • NM_001350460.2:c.409C>A
  • NM_001350461.2:c.166C>A
  • NM_001350462.2:c.340C>A
  • NM_001350463.2:c.166C>A
  • NM_001350464.2:c.166C>A
  • NM_001350465.2:c.166C>A
  • NM_001350466.2:c.166C>A
  • NM_001350467.2:c.166C>A
  • NM_001350468.2:c.166C>A
  • NM_001350469.2:c.166C>A
  • NM_001350470.2:c.364C>A
  • NM_001350471.2:c.340C>A
  • NM_001350472.2:c.364C>A
  • NM_001350473.2:c.364C>A
  • NM_001350474.2:c.364C>A
  • NM_014989.5:c.1987C>A
  • NM_014989.7:c.1987C>AMANE SELECT
  • NP_001161879.1:p.Pro137Thr
  • NP_001161880.1:p.Pro137Thr
  • NP_001161881.1:p.Pro56Thr
  • NP_001161882.1:p.Pro122Thr
  • NP_001337343.1:p.Pro137Thr
  • NP_001337344.1:p.Pro137Thr
  • NP_001337345.1:p.Pro137Thr
  • NP_001337346.1:p.Pro137Thr
  • NP_001337347.1:p.Pro137Thr
  • NP_001337348.1:p.Pro137Thr
  • NP_001337349.1:p.Pro137Thr
  • NP_001337350.1:p.Pro114Thr
  • NP_001337351.1:p.Pro137Thr
  • NP_001337352.1:p.Pro137Thr
  • NP_001337353.1:p.Pro114Thr
  • NP_001337354.1:p.Pro137Thr
  • NP_001337355.1:p.Pro137Thr
  • NP_001337356.1:p.Pro137Thr
  • NP_001337357.1:p.Pro114Thr
  • NP_001337358.1:p.Pro137Thr
  • NP_001337359.1:p.Pro114Thr
  • NP_001337360.1:p.Pro137Thr
  • NP_001337361.1:p.Pro137Thr
  • NP_001337362.1:p.Pro137Thr
  • NP_001337363.1:p.Pro137Thr
  • NP_001337364.1:p.Pro137Thr
  • NP_001337365.1:p.Pro137Thr
  • NP_001337366.1:p.Pro114Thr
  • NP_001337367.1:p.Pro137Thr
  • NP_001337368.1:p.Pro137Thr
  • NP_001337369.1:p.Pro137Thr
  • NP_001337370.1:p.Pro137Thr
  • NP_001337371.1:p.Pro137Thr
  • NP_001337372.1:p.Pro137Thr
  • NP_001337373.1:p.Pro137Thr
  • NP_001337374.1:p.Pro137Thr
  • NP_001337375.1:p.Pro137Thr
  • NP_001337376.1:p.Pro137Thr
  • NP_001337377.1:p.Pro137Thr
  • NP_001337378.1:p.Pro137Thr
  • NP_001337379.1:p.Pro114Thr
  • NP_001337381.1:p.Pro137Thr
  • NP_001337383.1:p.Pro137Thr
  • NP_001337384.1:p.Pro137Thr
  • NP_001337385.1:p.Pro137Thr
  • NP_001337386.1:p.Pro137Thr
  • NP_001337387.1:p.Pro137Thr
  • NP_001337388.1:p.Pro114Thr
  • NP_001337389.1:p.Pro137Thr
  • NP_001337390.1:p.Pro56Thr
  • NP_001337391.1:p.Pro114Thr
  • NP_001337392.1:p.Pro56Thr
  • NP_001337393.1:p.Pro56Thr
  • NP_001337394.1:p.Pro56Thr
  • NP_001337395.1:p.Pro56Thr
  • NP_001337396.1:p.Pro56Thr
  • NP_001337397.1:p.Pro56Thr
  • NP_001337398.1:p.Pro56Thr
  • NP_001337399.1:p.Pro122Thr
  • NP_001337400.1:p.Pro114Thr
  • NP_001337401.1:p.Pro122Thr
  • NP_001337402.1:p.Pro122Thr
  • NP_001337403.1:p.Pro122Thr
  • NP_055804.2:p.Pro663Thr
  • NP_055804.2:p.Pro663Thr
  • NC_000006.11:g.72952046C>A
  • NC_000006.11:g.72952046C>A
Protein change:
P114T
Molecular consequence:
  • NM_001168407.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001168408.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001168409.2:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001168410.2:c.364C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350414.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350415.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350416.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350417.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350418.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350419.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350420.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350421.2:c.340C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350422.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350423.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350424.2:c.340C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350425.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350426.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350427.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350428.2:c.340C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350429.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350430.2:c.340C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350431.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350432.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350433.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350434.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350435.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350436.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350437.2:c.340C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350438.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350439.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350440.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350441.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350442.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350443.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350444.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350445.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350446.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350447.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350448.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350449.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350450.2:c.340C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350452.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350454.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350455.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350456.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350457.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350458.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350459.2:c.340C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350460.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350461.2:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350462.2:c.340C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350463.2:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350464.2:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350465.2:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350466.2:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350467.2:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350468.2:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350469.2:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350470.2:c.364C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350471.2:c.340C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350472.2:c.364C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350473.2:c.364C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350474.2:c.364C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014989.5:c.1987C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014989.7:c.1987C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001409329Invitaecriteria provided, single submitter
Uncertain significance
(Oct 9, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001409329.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change replaces proline with threonine at codon 663 of the RIMS1 protein (p.Pro663Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RIMS1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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