NM_001348484.3(RIMS2):c.1693T>C (p.Ser565Pro) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 3, 2024
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:: RCV004451736.1

Allele description [Variation Report for NM_001348484.3(RIMS2):c.1693T>C (p.Ser565Pro)]

NM_001348484.3(RIMS2):c.1693T>C (p.Ser565Pro)

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.1693T>C (p.Ser565Pro)

HGVS:

NC_000008.11:g.103886160T>C
NG_053027.1:g.391135T>C
NM_001100117.3:c.1561T>C
NM_001282881.2:c.985T>C
NM_001348484.3:c.1693T>CMANE SELECT
NM_001348485.2:c.1561T>C
NM_001348486.2:c.1573T>C
NM_001348487.2:c.1573T>C
NM_001348488.2:c.1693T>C
NM_001348489.2:c.1561T>C
NM_001348490.2:c.1573T>C
NM_001348491.2:c.1681T>C
NM_001348492.2:c.1573T>C
NM_001348493.2:c.1561T>C
NM_001348494.2:c.1561T>C
NM_001348495.2:c.1603T>C
NM_001348496.2:c.1573T>C
NM_001348497.2:c.1561T>C
NM_001348498.2:c.985T>C
NM_001348499.2:c.985T>C
NM_001348500.2:c.985T>C
NM_001348501.2:c.985T>C
NM_001348502.2:c.985T>C
NM_001348503.2:c.985T>C
NM_001348504.2:c.985T>C
NM_001348505.2:c.985T>C
NM_001348506.2:c.985T>C
NM_001348507.2:c.985T>C
NM_001348508.2:c.985T>C
NM_001348509.2:c.985T>C
NM_001395652.1:c.1573T>C
NM_001395653.1:c.1693T>C
NM_001395654.1:c.1693T>C
NM_014677.5:c.985T>C
NP_001093587.1:p.Ser521Pro
NP_001269810.1:p.Ser329Pro
NP_001335413.1:p.Ser565Pro
NP_001335414.1:p.Ser521Pro
NP_001335415.1:p.Ser525Pro
NP_001335416.1:p.Ser525Pro
NP_001335417.1:p.Ser565Pro
NP_001335418.1:p.Ser521Pro
NP_001335419.1:p.Ser525Pro
NP_001335420.1:p.Ser561Pro
NP_001335421.1:p.Ser525Pro
NP_001335422.1:p.Ser521Pro
NP_001335423.1:p.Ser521Pro
NP_001335424.1:p.Ser535Pro
NP_001335425.1:p.Ser525Pro
NP_001335426.1:p.Ser521Pro
NP_001335427.1:p.Ser329Pro
NP_001335428.1:p.Ser329Pro
NP_001335429.1:p.Ser329Pro
NP_001335430.1:p.Ser329Pro
NP_001335431.1:p.Ser329Pro
NP_001335432.1:p.Ser329Pro
NP_001335433.1:p.Ser329Pro
NP_001335434.1:p.Ser329Pro
NP_001335435.1:p.Ser329Pro
NP_001335436.1:p.Ser329Pro
NP_001335437.1:p.Ser329Pro
NP_001335438.1:p.Ser329Pro
NP_001382581.1:p.Ser525Pro
NP_001382582.1:p.Ser565Pro
NP_001382583.1:p.Ser565Pro
NP_055492.3:p.Ser329Pro
NC_000008.10:g.104898388T>C
NM_001100117.2:c.1561T>C
NR_145710.2:n.1970T>C
NR_145711.2:n.1273T>C

Protein change:

S329P

Molecular consequence:

NM_001100117.3:c.1561T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282881.2:c.985T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348484.3:c.1693T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348485.2:c.1561T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348486.2:c.1573T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348487.2:c.1573T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348488.2:c.1693T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348489.2:c.1561T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348490.2:c.1573T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348491.2:c.1681T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348492.2:c.1573T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348493.2:c.1561T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348494.2:c.1561T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348495.2:c.1603T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348496.2:c.1573T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348497.2:c.1561T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348498.2:c.985T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348499.2:c.985T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348500.2:c.985T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348501.2:c.985T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348502.2:c.985T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348503.2:c.985T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348504.2:c.985T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348505.2:c.985T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348506.2:c.985T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348507.2:c.985T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348508.2:c.985T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348509.2:c.985T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001395652.1:c.1573T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001395653.1:c.1693T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001395654.1:c.1693T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_014677.5:c.985T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_145710.2:n.1970T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_145711.2:n.1273T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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potassium large conductance calcium-activated channel, subfamily M, beta member ...
potassium large conductance calcium-activated channel, subfamily M, beta member 1, isoform CRA_a [Rattus norvegicus]
gi|149052262|gb|EDM04079.1||gnl|WGS |rCP46109

Protein
PREDICTED: Rattus norvegicus endoplasmic reticulum-golgi intermediate compartmen...
PREDICTED: Rattus norvegicus endoplasmic reticulum-golgi intermediate compartment 1 (Ergic1), transcript variant X1, mRNA
gi|2678877262|ref|XM_063268572.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004939979	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 3, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004939979

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 3, 2024)

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, SCV004939979.1

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

Description

The c.1561T>C (p.S521P) alteration is located in exon 4 (coding exon 4) of the RIMS2 gene. This alteration results from a T to C substitution at nucleotide position 1561, causing the serine (S) at amino acid position 521 to be replaced by a proline (P). 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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