NM_001348484.3(RIMS2):c.2420G>T (p.Ser807Ile) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 8, 2022
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:: RCV004134208.1

Allele description [Variation Report for NM_001348484.3(RIMS2):c.2420G>T (p.Ser807Ile)]

NM_001348484.3(RIMS2):c.2420G>T (p.Ser807Ile)

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.2420G>T (p.Ser807Ile)

HGVS:

NC_000008.11:g.103921735G>T
NG_053027.1:g.426710G>T
NM_001100117.3:c.2147G>T
NM_001282881.2:c.1712G>T
NM_001348484.3:c.2420G>TMANE SELECT
NM_001348485.2:c.2147G>T
NM_001348486.2:c.2300G>T
NM_001348487.2:c.2159G>T
NM_001348488.2:c.2279G>T
NM_001348489.2:c.2147G>T
NM_001348490.2:c.2159G>T
NM_001348491.2:c.2408G>T
NM_001348492.2:c.2159G>T
NM_001348493.2:c.2147G>T
NM_001348494.2:c.2288G>T
NM_001348495.2:c.2189G>T
NM_001348496.2:c.2159G>T
NM_001348497.2:c.2288G>T
NM_001348498.2:c.1571G>T
NM_001348499.2:c.1571G>T
NM_001348500.2:c.1571G>T
NM_001348501.2:c.1571G>T
NM_001348502.2:c.1571G>T
NM_001348503.2:c.1571G>T
NM_001348504.2:c.1571G>T
NM_001348505.2:c.1712G>T
NM_001348506.2:c.1571G>T
NM_001348507.2:c.1571G>T
NM_001348508.2:c.1571G>T
NM_001348509.2:c.1571G>T
NM_001395652.1:c.2159G>T
NM_001395653.1:c.2279G>T
NM_001395654.1:c.2279G>T
NM_014677.5:c.1571G>T
NP_001093587.1:p.Ser716Ile
NP_001269810.1:p.Ser571Ile
NP_001335413.1:p.Ser807Ile
NP_001335414.1:p.Ser716Ile
NP_001335415.1:p.Ser767Ile
NP_001335416.1:p.Ser720Ile
NP_001335417.1:p.Ser760Ile
NP_001335418.1:p.Ser716Ile
NP_001335419.1:p.Ser720Ile
NP_001335420.1:p.Ser803Ile
NP_001335421.1:p.Ser720Ile
NP_001335422.1:p.Ser716Ile
NP_001335423.1:p.Ser763Ile
NP_001335424.1:p.Ser730Ile
NP_001335425.1:p.Ser720Ile
NP_001335426.1:p.Ser763Ile
NP_001335427.1:p.Ser524Ile
NP_001335428.1:p.Ser524Ile
NP_001335429.1:p.Ser524Ile
NP_001335430.1:p.Ser524Ile
NP_001335431.1:p.Ser524Ile
NP_001335432.1:p.Ser524Ile
NP_001335433.1:p.Ser524Ile
NP_001335434.1:p.Ser571Ile
NP_001335435.1:p.Ser524Ile
NP_001335436.1:p.Ser524Ile
NP_001335437.1:p.Ser524Ile
NP_001335438.1:p.Ser524Ile
NP_001382581.1:p.Ser720Ile
NP_001382582.1:p.Ser760Ile
NP_001382583.1:p.Ser760Ile
NP_055492.3:p.Ser524Ile
NC_000008.10:g.104933963G>T
NM_001100117.2:c.2147G>T
NR_145710.2:n.2556G>T
NR_145711.2:n.1859G>T

Protein change:

S524I

Molecular consequence:

NM_001100117.3:c.2147G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001282881.2:c.1712G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348484.3:c.2420G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348485.2:c.2147G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348486.2:c.2300G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348487.2:c.2159G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348488.2:c.2279G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348489.2:c.2147G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348490.2:c.2159G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348491.2:c.2408G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348492.2:c.2159G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348493.2:c.2147G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348494.2:c.2288G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348495.2:c.2189G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348496.2:c.2159G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348497.2:c.2288G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348498.2:c.1571G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348499.2:c.1571G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348500.2:c.1571G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348501.2:c.1571G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348502.2:c.1571G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348503.2:c.1571G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348504.2:c.1571G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348505.2:c.1712G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348506.2:c.1571G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348507.2:c.1571G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348508.2:c.1571G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348509.2:c.1571G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001395652.1:c.2159G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001395653.1:c.2279G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001395654.1:c.2279G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_014677.5:c.1571G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_145710.2:n.2556G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_145711.2:n.1859G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Maxi potassium channel beta subunit [Rattus norvegicus]
Maxi potassium channel beta subunit [Rattus norvegicus]
gi|2444424|gb|AAD11858.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003615340	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 8, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003615340

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 8, 2022)

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, SCV003615340.2

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

Description

The c.2147G>T (p.S716I) alteration is located in exon 10 (coding exon 10) of the RIMS2 gene. This alteration results from a G to T substitution at nucleotide position 2147, causing the serine (S) at amino acid position 716 to be replaced by an isoleucine (I). 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: Nov 10, 2024

ClinVar

Relating variation to medicine