NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) AND Progressive myoclonic epilepsy

Germline classification:: Benign (2 submissions)
Last evaluated:: Feb 4, 2025
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:: RCV000276471.21

Allele description [Variation Report for NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys)]

NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys)

Genes:

LOC126862578:BRD4-independent group 4 enhancer GRCh37_chr17:45008344-45009543 [Gene]
GOSR2:golgi SNAP receptor complex member 2 [Gene - OMIM - HGNC]
LRRC37A2:leucine rich repeat containing 37 member A2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.32

Genomic location:

Preferred name:

NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys)

HGVS:

NC_000017.11:g.46931204G>A
NG_031806.2:g.13085G>A
NM_001012511.3:c.200G>A
NM_001321133.2:c.200G>A
NM_001321134.2:c.146G>A
NM_001330252.2:c.200G>A
NM_001353114.2:c.197G>A
NM_001353115.2:c.197G>A
NM_001353116.2:c.197G>A
NM_001363851.2:c.146G>A
NM_004287.5:c.200G>AMANE SELECT
NM_004287.5:c.200G>A
NM_054022.4:c.200G>A
NP_001012529.1:p.Arg67Lys
NP_001308062.1:p.Arg67Lys
NP_001308063.1:p.Arg49Lys
NP_001317181.1:p.Arg67Lys
NP_001340043.1:p.Arg66Lys
NP_001340044.1:p.Arg66Lys
NP_001340045.1:p.Arg66Lys
NP_001350780.1:p.Arg49Lys
NP_004278.2:p.Arg67Lys
NP_004278.2:p.Arg67Lys
NP_473363.1:p.Arg67Lys
NC_000017.10:g.45008570G>A
NC_000017.11:g.46931204G>A
NM_004287.3:c.200G>A
NM_004287.4:c.200G>A
NR_148349.2:n.233G>A
NR_148350.2:n.233G>A
NR_148351.2:n.233G>A
O14653:p.Arg67Lys

Protein change:

R49K

Links:

UniProtKB: O14653#VAR_024471; dbSNP: rs197922

NCBI 1000 Genomes Browser:

rs197922

Molecular consequence:

NM_001012511.3:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001321133.2:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001321134.2:c.146G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001330252.2:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353114.2:c.197G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353115.2:c.197G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353116.2:c.197G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001363851.2:c.146G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004287.5:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_054022.4:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_148349.2:n.233G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148350.2:n.233G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148351.2:n.233G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Progressive myoclonic epilepsy
Synonyms:: Myoclonic Epilepsies, Progressive; Familial progressive myoclonic epilepsy; Progressive myoclonus epilepsy; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0020074; MedGen: C0751778; Orphanet: 308; OMIM: PS254800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000403687	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Benign (Jun 14, 2016)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 19057520, 23449775 ICSL_Variant_Classification_20161018.pdf, Citation Link,
SCV001721732	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Feb 4, 2025)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000403687

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Benign
(Jun 14, 2016)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV001721732

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Feb 4, 2025)

germline

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

GOSR2 Lys67Arg is associated with hypertension in whites.

Meyer TE, Shiffman D, Morrison AC, Rowland CM, Louie JZ, Bare LA, Ross DA, Arellano AR, Chasman DI, Ridker PM, Pankow JS, Coresh J, Malloy MJ, Kane JP, Ellis SG, Devlin JJ, Boerwinkle E.

Am J Hypertens. 2009 Feb;22(2):163-8. doi: 10.1038/ajh.2008.336. Epub 2008 Dec 4.

PubMed [citation]

PMID:: 19057520
PMCID:: PMC4346180

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.

Boissé Lomax L, Bayly MA, Hjalgrim H, Møller RS, Vlaar AM, Aaberg KM, Marquardt I, Gandolfo LC, Willemsen M, Kamsteeg EJ, O'Sullivan JD, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Said I, Prescott T, Stray-Pedersen A, Rasmussen M, Vears DF, Lehesjoki AE, Corbett MA, et al.

Brain. 2013 Apr;136(Pt 4):1146-54. doi: 10.1093/brain/awt021. Epub 2013 Feb 28.

PubMed [citation]

PMID:: 23449775

See all PubMed Citations (3)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000403687.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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 Labcorp Genetics (formerly Invitae), Labcorp, SCV001721732.5

#	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

Last Updated: May 16, 2025

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