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NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) AND Progressive myoclonic epilepsy type 6

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 10, 2021
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:
RCV001701753.10

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 type 6
Identifiers:
MONDO: MONDO:0013526; MedGen: C5190805; Orphanet: 280620; OMIM: 614018

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001933883Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Aug 10, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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 Genome-Nilou Lab, SCV001933883.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025