NM_001348484.3(RIMS2):c.1595C>G (p.Ser532Ter) 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:: RCV001250790.2

Allele description [Variation Report for NM_001348484.3(RIMS2):c.1595C>G (p.Ser532Ter)]

NM_001348484.3(RIMS2):c.1595C>G (p.Ser532Ter)

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.1595C>G (p.Ser532Ter)

HGVS:

NC_000008.11:g.103886062C>G
NG_053027.1:g.391037C>G
NM_001100117.3:c.1463C>G
NM_001282881.2:c.887C>G
NM_001348484.3:c.1595C>GMANE SELECT
NM_001348485.2:c.1463C>G
NM_001348486.2:c.1475C>G
NM_001348487.2:c.1475C>G
NM_001348488.2:c.1595C>G
NM_001348489.2:c.1463C>G
NM_001348490.2:c.1475C>G
NM_001348491.2:c.1583C>G
NM_001348492.2:c.1475C>G
NM_001348493.2:c.1463C>G
NM_001348494.2:c.1463C>G
NM_001348495.2:c.1505C>G
NM_001348496.2:c.1475C>G
NM_001348497.2:c.1463C>G
NM_001348498.2:c.887C>G
NM_001348499.2:c.887C>G
NM_001348500.2:c.887C>G
NM_001348501.2:c.887C>G
NM_001348502.2:c.887C>G
NM_001348503.2:c.887C>G
NM_001348504.2:c.887C>G
NM_001348505.2:c.887C>G
NM_001348506.2:c.887C>G
NM_001348507.2:c.887C>G
NM_001348508.2:c.887C>G
NM_001348509.2:c.887C>G
NM_001395652.1:c.1475C>G
NM_001395653.1:c.1595C>G
NM_001395654.1:c.1595C>G
NM_014677.5:c.887C>G
NP_001093587.1:p.Ser488Ter
NP_001269810.1:p.Ser296Ter
NP_001335413.1:p.Ser532Ter
NP_001335414.1:p.Ser488Ter
NP_001335415.1:p.Ser492Ter
NP_001335416.1:p.Ser492Ter
NP_001335417.1:p.Ser532Ter
NP_001335418.1:p.Ser488Ter
NP_001335419.1:p.Ser492Ter
NP_001335420.1:p.Ser528Ter
NP_001335421.1:p.Ser492Ter
NP_001335422.1:p.Ser488Ter
NP_001335423.1:p.Ser488Ter
NP_001335424.1:p.Ser502Ter
NP_001335425.1:p.Ser492Ter
NP_001335426.1:p.Ser488Ter
NP_001335427.1:p.Ser296Ter
NP_001335428.1:p.Ser296Ter
NP_001335429.1:p.Ser296Ter
NP_001335430.1:p.Ser296Ter
NP_001335431.1:p.Ser296Ter
NP_001335432.1:p.Ser296Ter
NP_001335433.1:p.Ser296Ter
NP_001335434.1:p.Ser296Ter
NP_001335435.1:p.Ser296Ter
NP_001335436.1:p.Ser296Ter
NP_001335437.1:p.Ser296Ter
NP_001335438.1:p.Ser296Ter
NP_001382581.1:p.Ser492Ter
NP_001382582.1:p.Ser532Ter
NP_001382583.1:p.Ser532Ter
NP_055492.3:p.Ser296Ter
NC_000008.10:g.104898290C>G
NM_001348484.1:c.1595C>G
NR_145710.2:n.1872C>G
NR_145711.2:n.1175C>G

Protein change:

S296*; SER532TER

Links:

OMIM: 606630.0005; dbSNP: rs2099199060

NCBI 1000 Genomes Browser:

rs2099199060

Molecular consequence:

NR_145710.2:n.1872C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_145711.2:n.1175C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001100117.3:c.1463C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001282881.2:c.887C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348484.3:c.1595C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348485.2:c.1463C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348486.2:c.1475C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348487.2:c.1475C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348488.2:c.1595C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348489.2:c.1463C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348490.2:c.1475C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348491.2:c.1583C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348492.2:c.1475C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348493.2:c.1463C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348494.2:c.1463C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348495.2:c.1505C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348496.2:c.1475C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348497.2:c.1463C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348498.2:c.887C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348499.2:c.887C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348500.2:c.887C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348501.2:c.887C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348502.2:c.887C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348503.2:c.887C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348504.2:c.887C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348505.2:c.887C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348506.2:c.887C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348507.2:c.887C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348508.2:c.887C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001348509.2:c.887C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001395652.1:c.1475C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001395653.1:c.1595C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001395654.1:c.1595C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_014677.5:c.887C>G - 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

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Homo sapiens XK related 3 (XKR3), transcript variant 5, mRNA
Homo sapiens XK related 3 (XKR3), transcript variant 5, mRNA
gi|1905076764|ref|NM_001386957.1|

Nucleotide
Mus musculus BAC clone RP23-313P23 from chromosome 9, complete sequence
Mus musculus BAC clone RP23-313P23 from chromosome 9, complete sequence
gi|71143388|gb|AC159892.2||gnl|wugs 3-313P23

Nucleotide
Anthomyiidae sp. BIOUG05615-B05 cytochrome oxidase subunit 1 (COI) gene, partial...
Anthomyiidae sp. BIOUG05615-B05 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrial
gi|1484011757|gnl|uoguelph|SMTPB108 .COI-5P|gb|MG116189.1|

Nucleotide
cytochrome oxidase subunit 1, partial (mitochondrion) [Fannia brooksi]
cytochrome oxidase subunit 1, partial (mitochondrion) [Fannia brooksi]
gi|1420815027|gb|AXB24780.1|

Protein
Rattus norvegicus intraflagellar transport 25 (Ift25), transcript variant 1, mRN...
Rattus norvegicus intraflagellar transport 25 (Ift25), transcript variant 1, mRNA
gi|196114869|ref|NM_001131002.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001426204	OMIM	no assertion criteria provided	Pathogenic (Jul 29, 2020)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001426204

OMIM

no assertion criteria provided

Pathogenic
(Jul 29, 2020)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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, SCV001426204.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 9-year-old Senegalese boy with congenital nonprogressive cone-rod synaptic disorder syndrome (CRSDS; 618970), Mechaussier et al. (2020) identified homozygosity for a c.1595C-G transversion in the RIMS2 gene, resulting in a ser532-to-ter (S532X) substitution. His consanguineous parents were heterozygous for the mutation. Immunoblot analysis in HEK293 cells overexpressing the S532X mutant confirmed production of an approximately 60-kD truncated protein, compared to the approximately 210-kD wildtype protein.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 24, 2022

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