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NM_006950.3(SYN1):c.745C>T (p.Gln249Ter) AND Intellectual disability, X-linked 50

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:
RCV002508157.2

Allele description [Variation Report for NM_006950.3(SYN1):c.745C>T (p.Gln249Ter)]

NM_006950.3(SYN1):c.745C>T (p.Gln249Ter)

Gene:
SYN1:synapsin I [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_006950.3(SYN1):c.745C>T (p.Gln249Ter)
HGVS:
  • NC_000023.11:g.47605007G>A
  • NG_008437.1:g.19851C>T
  • NM_006950.3:c.745C>TMANE SELECT
  • NM_133499.2:c.745C>T
  • NP_008881.2:p.Gln249Ter
  • NP_598006.1:p.Gln249Ter
  • NC_000023.10:g.47464406G>A
Protein change:
Q249*
Links:
dbSNP: rs2057891984
NCBI 1000 Genomes Browser:
rs2057891984
Molecular consequence:
  • NM_006950.3:c.745C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_133499.2:c.745C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Intellectual disability, X-linked 50 (XLID50)
Synonyms:
MRX50; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50
Identifiers:
MONDO: MONDO:0010251; MedGen: C1848087; Orphanet: 777; OMIM: 300115

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002558872Institute for Human Genetics, University Hospital Essen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 30, 2022) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot 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

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, SCV002558872.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 30, 2023