NM_001348484.3(RIMS2):c.2531A>C (p.Asp844Ala) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (3 submissions)
Last evaluated:: Oct 1, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000880822.15

Allele description

NM_001348484.3(RIMS2):c.2531A>C (p.Asp844Ala)

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.2531A>C (p.Asp844Ala)

HGVS:

NC_000008.11:g.103931324A>C
NG_053027.1:g.436299A>C
NM_001100117.3:c.2306A>C
NM_001282881.2:c.1823A>C
NM_001348484.3:c.2531A>CMANE SELECT
NM_001348485.2:c.2258A>C
NM_001348486.2:c.2411A>C
NM_001348487.2:c.2270A>C
NM_001348488.2:c.2390A>C
NM_001348489.2:c.2258A>C
NM_001348490.2:c.2270A>C
NM_001348491.2:c.2519A>C
NM_001348492.2:c.2270A>C
NM_001348493.2:c.2258A>C
NM_001348494.2:c.2399A>C
NM_001348495.2:c.2300A>C
NM_001348496.2:c.2270A>C
NM_001348497.2:c.2399A>C
NM_001348498.2:c.1682A>C
NM_001348499.2:c.1682A>C
NM_001348500.2:c.1682A>C
NM_001348501.2:c.1682A>C
NM_001348502.2:c.1682A>C
NM_001348503.2:c.1682A>C
NM_001348504.2:c.1730A>C
NM_001348505.2:c.1823A>C
NM_001348506.2:c.1682A>C
NM_001348507.2:c.1730A>C
NM_001348508.2:c.1682A>C
NM_001348509.2:c.1682A>C
NM_001395652.1:c.2318A>C
NM_001395653.1:c.2390A>C
NM_001395654.1:c.2390A>C
NM_014677.5:c.1682A>C
NP_001093587.1:p.Asp769Ala
NP_001269810.1:p.Asp608Ala
NP_001335413.1:p.Asp844Ala
NP_001335414.1:p.Asp753Ala
NP_001335415.1:p.Asp804Ala
NP_001335416.1:p.Asp757Ala
NP_001335417.1:p.Asp797Ala
NP_001335418.1:p.Asp753Ala
NP_001335419.1:p.Asp757Ala
NP_001335420.1:p.Asp840Ala
NP_001335421.1:p.Asp757Ala
NP_001335422.1:p.Asp753Ala
NP_001335423.1:p.Asp800Ala
NP_001335424.1:p.Asp767Ala
NP_001335425.1:p.Asp757Ala
NP_001335426.1:p.Asp800Ala
NP_001335427.1:p.Asp561Ala
NP_001335428.1:p.Asp561Ala
NP_001335429.1:p.Asp561Ala
NP_001335430.1:p.Asp561Ala
NP_001335431.1:p.Asp561Ala
NP_001335432.1:p.Asp561Ala
NP_001335433.1:p.Asp577Ala
NP_001335434.1:p.Asp608Ala
NP_001335435.1:p.Asp561Ala
NP_001335436.1:p.Asp577Ala
NP_001335437.1:p.Asp561Ala
NP_001335438.1:p.Asp561Ala
NP_001382581.1:p.Asp773Ala
NP_001382582.1:p.Asp797Ala
NP_001382583.1:p.Asp797Ala
NP_055492.3:p.Asp561Ala
NC_000008.10:g.104943552A>C
NM_001100117.2:c.2306A>C
NR_145710.2:n.2667A>C
NR_145711.2:n.1970A>C

Protein change:

D561A

Links:

dbSNP: rs61753731

NCBI 1000 Genomes Browser:

rs61753731

Molecular consequence:

NM_001100117.3:c.2306A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282881.2:c.1823A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348484.3:c.2531A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348485.2:c.2258A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348486.2:c.2411A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348487.2:c.2270A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348488.2:c.2390A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348489.2:c.2258A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348490.2:c.2270A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348491.2:c.2519A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348492.2:c.2270A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348493.2:c.2258A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348494.2:c.2399A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348495.2:c.2300A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348496.2:c.2270A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348497.2:c.2399A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348498.2:c.1682A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348499.2:c.1682A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348500.2:c.1682A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348501.2:c.1682A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348502.2:c.1682A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348503.2:c.1682A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348504.2:c.1730A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348505.2:c.1823A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348506.2:c.1682A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348507.2:c.1730A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348508.2:c.1682A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348509.2:c.1682A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001395652.1:c.2318A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001395653.1:c.2390A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001395654.1:c.2390A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_014677.5:c.1682A>C - missense variant - [Sequence Ontology: SO:0001583]
NR_145710.2:n.2667A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_145711.2:n.1970A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001023944	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Dec 31, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004158325	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Oct 1, 2022)	germline	clinical testing	Citation Link,
SCV005267873	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001023944

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Dec 31, 2019)

germline

clinical testing

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

SCV004158325

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Benign
(Oct 1, 2022)

germline

clinical testing

Citation Link,

SCV005267873

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

not provided

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	yes	1	not provided	not provided	not provided	not provided	clinical testing, not provided
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001023944.2

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

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV004158325.9

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

Description

RIMS2: PP3, BS1, BS2

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

From Breakthrough Genomics, Breakthrough Genomics, SCV005267873.1

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

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

Last Updated: Oct 8, 2024

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