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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Cbln1 protein, partial [Mus musculus]
Cbln1 protein, partial [Mus musculus]
gi|30704658|gb|AAH51956.1|

Protein
RecName: Full=Protein sprouty homolog 4; Short=Spry-4
RecName: Full=Protein sprouty homolog 4; Short=Spry-4
gi|14916719|sp|Q9C004.2|SPY4_HUMAN

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001934436	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 15, 2020)	de novo	clinical testing	PubMed (2) [See all records that cite these PMIDs] 33299146, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001934436

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 15, 2020)

de novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical 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

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

Description

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

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

Last Updated: Sep 29, 2024

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