NM_130811.4(SNAP25):c.92G>A (p.Arg31His) AND Early infantile epileptic encephalopathy with suppression bursts

Germline classification:: Uncertain significance (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:: RCV001706887.2

Allele description [Variation Report for NM_130811.4(SNAP25):c.92G>A (p.Arg31His)]

NM_130811.4(SNAP25):c.92G>A (p.Arg31His)

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.92G>A (p.Arg31His)

HGVS:

NC_000020.11:g.10277704G>A
NG_029626.1:g.63876G>A
NM_001322902.2:c.92G>A
NM_001322903.2:c.92G>A
NM_001322904.2:c.92G>A
NM_001322905.2:c.92G>A
NM_001322906.2:c.92G>A
NM_001322907.2:c.92G>A
NM_001322908.2:c.92G>A
NM_001322909.2:c.92G>A
NM_001322910.2:c.92G>A
NM_003081.5:c.92G>A
NM_130811.4:c.92G>AMANE SELECT
NP_001309831.1:p.Arg31His
NP_001309832.1:p.Arg31His
NP_001309833.1:p.Arg31His
NP_001309834.1:p.Arg31His
NP_001309835.1:p.Arg31His
NP_001309836.1:p.Arg31His
NP_001309837.1:p.Arg31His
NP_001309838.1:p.Arg31His
NP_001309839.1:p.Arg31His
NP_003072.2:p.Arg31His
NP_570824.1:p.Arg31His
NC_000020.10:g.10258352G>A
NM_130811.3:c.92G>A

Protein change:

R31H

Links:

dbSNP: rs1341058084

NCBI 1000 Genomes Browser:

rs1341058084

Molecular consequence:

NM_001322902.2:c.92G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322903.2:c.92G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322904.2:c.92G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322905.2:c.92G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322906.2:c.92G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322907.2:c.92G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322908.2:c.92G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322909.2:c.92G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322910.2:c.92G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003081.5:c.92G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130811.4:c.92G>A - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001934444	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 15, 2020)	unknown	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

SCV001934444

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 15, 2020)

unknown

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	unknown	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, SCV001934444.1

#	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	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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