NM_001348484.3(RIMS2):c.587A>G (p.Tyr196Cys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 17, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV004451748.1

Allele description [Variation Report for NM_001348484.3(RIMS2):c.587A>G (p.Tyr196Cys)]

NM_001348484.3(RIMS2):c.587A>G (p.Tyr196Cys)

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.587A>G (p.Tyr196Cys)

HGVS:

NC_000008.11:g.103766294A>G
NG_053027.1:g.271269A>G
NM_001100117.3:c.455A>G
NM_001348484.3:c.587A>GMANE SELECT
NM_001348485.2:c.455A>G
NM_001348486.2:c.467A>G
NM_001348487.2:c.467A>G
NM_001348488.2:c.587A>G
NM_001348489.2:c.455A>G
NM_001348490.2:c.467A>G
NM_001348491.2:c.575A>G
NM_001348492.2:c.467A>G
NM_001348493.2:c.455A>G
NM_001348494.2:c.455A>G
NM_001348495.2:c.455A>G
NM_001348496.2:c.467A>G
NM_001348497.2:c.455A>G
NM_001395652.1:c.467A>G
NM_001395653.1:c.587A>G
NM_001395654.1:c.587A>G
NP_001093587.1:p.Tyr152Cys
NP_001335413.1:p.Tyr196Cys
NP_001335414.1:p.Tyr152Cys
NP_001335415.1:p.Tyr156Cys
NP_001335416.1:p.Tyr156Cys
NP_001335417.1:p.Tyr196Cys
NP_001335418.1:p.Tyr152Cys
NP_001335419.1:p.Tyr156Cys
NP_001335420.1:p.Tyr192Cys
NP_001335421.1:p.Tyr156Cys
NP_001335422.1:p.Tyr152Cys
NP_001335423.1:p.Tyr152Cys
NP_001335424.1:p.Tyr152Cys
NP_001335425.1:p.Tyr156Cys
NP_001335426.1:p.Tyr152Cys
NP_001382581.1:p.Tyr156Cys
NP_001382582.1:p.Tyr196Cys
NP_001382583.1:p.Tyr196Cys
NC_000008.10:g.104778522A>G
NM_001100117.2:c.455A>G
NR_145710.2:n.864A>G

Protein change:

Y152C

Molecular consequence:

NM_001100117.3:c.455A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348484.3:c.587A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348485.2:c.455A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348486.2:c.467A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348487.2:c.467A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348488.2:c.587A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348489.2:c.455A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348490.2:c.467A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348491.2:c.575A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348492.2:c.467A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348493.2:c.455A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348494.2:c.455A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348495.2:c.455A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348496.2:c.467A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348497.2:c.455A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001395652.1:c.467A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001395653.1:c.587A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001395654.1:c.587A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_145710.2:n.864A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004939991	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 17, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004939991

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 17, 2023)

germline

clinical testing

Citation Link

Help

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

Details of each submission

From Ambry Genetics, SCV004939991.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.455A>G (p.Y152C) alteration is located in exon 3 (coding exon 3) of the RIMS2 gene. This alteration results from a A to G substitution at nucleotide position 455, causing the tyrosine (Y) at amino acid position 152 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: May 7, 2024

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