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NM_130811.4(SNAP25):c.593G>C (p.Arg198Pro) AND Early infantile epileptic encephalopathy with suppression bursts

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 15, 2020
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:
RCV001706731.2

Allele description [Variation Report for NM_130811.4(SNAP25):c.593G>C (p.Arg198Pro)]

NM_130811.4(SNAP25):c.593G>C (p.Arg198Pro)

Gene:
SNAP25:synaptosome associated protein 25 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p12.2
Genomic location:
Preferred name:
NM_130811.4(SNAP25):c.593G>C (p.Arg198Pro)
HGVS:
  • NC_000020.11:g.10306169G>C
  • NG_029626.1:g.92341G>C
  • NM_001322902.2:c.593G>C
  • NM_001322903.2:c.593G>C
  • NM_001322904.2:c.593G>C
  • NM_001322905.2:c.593G>C
  • NM_001322906.2:c.593G>C
  • NM_001322907.2:c.593G>C
  • NM_001322908.2:c.593G>C
  • NM_001322909.2:c.593G>C
  • NM_001322910.2:c.593G>C
  • NM_003081.5:c.593G>C
  • NM_130811.4:c.593G>CMANE SELECT
  • NP_001309831.1:p.Arg198Pro
  • NP_001309832.1:p.Arg198Pro
  • NP_001309833.1:p.Arg198Pro
  • NP_001309834.1:p.Arg198Pro
  • NP_001309835.1:p.Arg198Pro
  • NP_001309836.1:p.Arg198Pro
  • NP_001309837.1:p.Arg198Pro
  • NP_001309838.1:p.Arg198Pro
  • NP_001309839.1:p.Arg198Pro
  • NP_003072.2:p.Arg198Pro
  • NP_570824.1:p.Arg198Pro
  • NC_000020.10:g.10286817G>C
  • NM_130811.3:c.593G>C
Protein change:
R198P
Links:
dbSNP: rs2064355563
NCBI 1000 Genomes Browser:
rs2064355563
Molecular consequence:
  • NM_001322902.2:c.593G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322903.2:c.593G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322904.2:c.593G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322905.2:c.593G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322906.2:c.593G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322907.2:c.593G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322908.2:c.593G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322909.2:c.593G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322910.2:c.593G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003081.5:c.593G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130811.4:c.593G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Early infantile epileptic encephalopathy with suppression bursts (EIEE)
Synonyms:
Early infantile epileptic encephalopathy; Ohtahara syndrome; Developmental and epileptic encephalopathy
Identifiers:
MONDO: MONDO:0100062; MedGen: C0393706; Orphanet: 1934; OMIM: PS308350

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001934436Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Jul 15, 2020)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.

Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH; Care4Rare Canada Consortium., Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, et al.

Genet Med. 2021 Apr;23(4):653-660. doi: 10.1038/s41436-020-01020-w. Epub 2020 Dec 10. Erratum in: Genet Med. 2021 Apr;23(4):796. doi: 10.1038/s41436-020-01090-w.

PubMed [citation]
PMID:
33299146

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 Institute of Human Genetics, University of Leipzig Medical Center, SCV001934436.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant was identified as de novo (maternity and paternity confirmed).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024