NM_006950.3(SYN1):c.1447C>T (p.Gln483Ter) AND Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 30, 2022
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:: RCV002508156.1

Allele description [Variation Report for NM_006950.3(SYN1):c.1447C>T (p.Gln483Ter)]

NM_006950.3(SYN1):c.1447C>T (p.Gln483Ter)

Gene:

SYN1:synapsin I [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.3

Genomic location:

Preferred name:

NM_006950.3(SYN1):c.1447C>T (p.Gln483Ter)

HGVS:

NC_000023.11:g.47574537G>A
NG_008437.1:g.50321C>T
NM_006950.3:c.1447C>TMANE SELECT
NM_133499.2:c.1447C>T
NP_008881.2:p.Gln483Ter
NP_598006.1:p.Gln483Ter
NC_000023.10:g.47433936G>A

Protein change:

Q483*

Links:

dbSNP: rs2057771219

NCBI 1000 Genomes Browser:

rs2057771219

Molecular consequence:

NM_006950.3:c.1447C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_133499.2:c.1447C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
Synonyms:: Epilepsy, X-linked, with variable learning disabilities and behavior disorders; X-linked epilepsy-learning disabilities-behavior disorders syndrome
Identifiers:: MONDO: MONDO:0010339; MedGen: C5774177; Orphanet: 85294; OMIM: 300491

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002558885	Institute for Human Genetics, University Hospital Essen	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 30, 2022)	maternal	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 36568968

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002558885

Institute for Human Genetics, University Hospital Essen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 30, 2022)

maternal

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	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical 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

The different clinical facets of SYN1-related neurodevelopmental disorders.

Parenti I, Leitão E, Kuechler A, Villard L, Goizet C, Courdier C, Bayat A, Rossi A, Julia S, Bruel AL, Tran Mau-Them F, Nambot S, Lehalle D, Willems M, Lespinasse J, Ghoumid J, Caumes R, Smol T, El Chehadeh S, Schaefer E, Abi-Warde MT, Keren B, et al.

Front Cell Dev Biol. 2022;10:1019715. doi: 10.3389/fcell.2022.1019715.

PubMed [citation]

PMID:: 36568968
PMCID:: PMC9773998

Details of each submission

From Institute for Human Genetics, University Hospital Essen, SCV002558885.1

#	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	maternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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