U.S. flag

An official website of the United States government

NM_001348484.3(RIMS2):c.2884C>T (p.Arg962Ter) AND Cone-rod synaptic disorder syndrome, congenital nonprogressive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 29, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001250787.2

Allele description [Variation Report for NM_001348484.3(RIMS2):c.2884C>T (p.Arg962Ter)]

NM_001348484.3(RIMS2):c.2884C>T (p.Arg962Ter)

Gene:
RIMS2:regulating synaptic membrane exocytosis 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q22.3
Genomic location:
Preferred name:
NM_001348484.3(RIMS2):c.2884C>T (p.Arg962Ter)
Other names:
R962*
HGVS:
  • NC_000008.11:g.103942884C>T
  • NG_053027.1:g.447859C>T
  • NM_001100117.3:c.2659C>T
  • NM_001282881.2:c.2176C>T
  • NM_001348484.3:c.2884C>TMANE SELECT
  • NM_001348485.2:c.2611C>T
  • NM_001348486.2:c.2764C>T
  • NM_001348487.2:c.2623C>T
  • NM_001348488.2:c.2743C>T
  • NM_001348489.2:c.2611C>T
  • NM_001348490.2:c.2623C>T
  • NM_001348491.2:c.2872C>T
  • NM_001348492.2:c.2623C>T
  • NM_001348493.2:c.2611C>T
  • NM_001348494.2:c.2752C>T
  • NM_001348495.2:c.2653C>T
  • NM_001348496.2:c.2623C>T
  • NM_001348497.2:c.2752C>T
  • NM_001348498.2:c.2035C>T
  • NM_001348499.2:c.2035C>T
  • NM_001348500.2:c.2035C>T
  • NM_001348501.2:c.2035C>T
  • NM_001348502.2:c.2035C>T
  • NM_001348503.2:c.2035C>T
  • NM_001348504.2:c.2083C>T
  • NM_001348505.2:c.2176C>T
  • NM_001348506.2:c.2035C>T
  • NM_001348507.2:c.2083C>T
  • NM_001348508.2:c.2035C>T
  • NM_001348509.2:c.2035C>T
  • NM_001395652.1:c.2671C>T
  • NM_001395653.1:c.2743C>T
  • NM_001395654.1:c.2743C>T
  • NM_014677.5:c.2035C>T
  • NP_001093587.1:p.Arg887Ter
  • NP_001269810.1:p.Arg726Ter
  • NP_001335413.1:p.Arg962Ter
  • NP_001335414.1:p.Arg871Ter
  • NP_001335415.1:p.Arg922Ter
  • NP_001335416.1:p.Arg875Ter
  • NP_001335417.1:p.Arg915Ter
  • NP_001335418.1:p.Arg871Ter
  • NP_001335419.1:p.Arg875Ter
  • NP_001335420.1:p.Arg958Ter
  • NP_001335421.1:p.Arg875Ter
  • NP_001335422.1:p.Arg871Ter
  • NP_001335423.1:p.Arg918Ter
  • NP_001335424.1:p.Arg885Ter
  • NP_001335425.1:p.Arg875Ter
  • NP_001335426.1:p.Arg918Ter
  • NP_001335427.1:p.Arg679Ter
  • NP_001335428.1:p.Arg679Ter
  • NP_001335429.1:p.Arg679Ter
  • NP_001335430.1:p.Arg679Ter
  • NP_001335431.1:p.Arg679Ter
  • NP_001335432.1:p.Arg679Ter
  • NP_001335433.1:p.Arg695Ter
  • NP_001335434.1:p.Arg726Ter
  • NP_001335435.1:p.Arg679Ter
  • NP_001335436.1:p.Arg695Ter
  • NP_001335437.1:p.Arg679Ter
  • NP_001335438.1:p.Arg679Ter
  • NP_001382581.1:p.Arg891Ter
  • NP_001382582.1:p.Arg915Ter
  • NP_001382583.1:p.Arg915Ter
  • NP_055492.3:p.Arg679Ter
  • NC_000008.10:g.104955112C>T
  • NM_001348484.1:c.2884C>T
  • NR_145710.2:n.3020C>T
  • NR_145711.2:n.2323C>T
Protein change:
R679*; ARG962TER
Links:
OMIM: 606630.0002; dbSNP: rs1449861708
NCBI 1000 Genomes Browser:
rs1449861708
Molecular consequence:
  • NR_145710.2:n.3020C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_145711.2:n.2323C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001100117.3:c.2659C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001282881.2:c.2176C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348484.3:c.2884C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348485.2:c.2611C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348486.2:c.2764C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348487.2:c.2623C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348488.2:c.2743C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348489.2:c.2611C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348490.2:c.2623C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348491.2:c.2872C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348492.2:c.2623C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348493.2:c.2611C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348494.2:c.2752C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348495.2:c.2653C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348496.2:c.2623C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348497.2:c.2752C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348498.2:c.2035C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348499.2:c.2035C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348500.2:c.2035C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348501.2:c.2035C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348502.2:c.2035C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348503.2:c.2035C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348504.2:c.2083C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348505.2:c.2176C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348506.2:c.2035C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348507.2:c.2083C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348508.2:c.2035C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348509.2:c.2035C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001395652.1:c.2671C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001395653.1:c.2743C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001395654.1:c.2743C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014677.5:c.2035C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cone-rod synaptic disorder syndrome, congenital nonprogressive
Identifiers:
MONDO: MONDO:0033543; MedGen: C5436505; OMIM: 618970

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001426201OMIM
no assertion criteria provided
Pathogenic
(Jul 29, 2020) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

Mechaussier S, Almoallem B, Zeitz C, Van Schil K, Jeddawi L, Van Dorpe J, Dueñas Rey A, Condroyer C, Pelle O, Polak M, Boddaert N, Bahi-Buisson N, Cavallin M, Bacquet JL, Mouallem-Bézière A, Zambrowski O, Sahel JA, Audo I, Kaplan J, Rozet JM, De Baere E, Perrault I.

Am J Hum Genet. 2020 Jun 4;106(6):859-871. doi: 10.1016/j.ajhg.2020.04.018. Epub 2020 May 28. Erratum in: Am J Hum Genet. 2020 Sep 3;107(3):580. doi: 10.1016/j.ajhg.2020.08.004.

PubMed [citation]
PMID:
32470375
PMCID:
PMC7273530

Details of each submission

From OMIM, SCV001426201.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 7-year-old French boy (family 2) with congenital nonprogressive cone-rod synaptic disorder syndrome (CRSDS; 618970), Mechaussier et al. (2020) identified compound heterozygosity for a c.2884C-T transition (c.2884C-T, NM_001348484.1) in the RIMS2 gene, resulting in an arg962-to-ter (R962X) substitution, and a splicing mutation (c.4363+1G-A) in intron 29, predicted to abolish the donor splice site and cause skipping of the adjacent exon (c.4251_4363del), resulting in a frameshift and introduction of a premature termination codon (Asn1417LysfsTer2). His unaffected parents were each heterozygous for 1 of the mutations. Immunoblot analysis in HEK293 cells overexpressing the R962X mutant confirmed production of an approximately 120-kD truncated protein, compared to the approximately 210-kD wildtype protein. MIN6B1 cells overexpressing the R962X mutant showed reduced insulin accumulation, whereas overexpression of wildtype RIMS2 did not affect insulin secretion.

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

Last Updated: May 24, 2022