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NM_003179.3(SYP):c.649G>C (p.Gly217Arg) AND Intellectual disability, X-linked 96

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2009
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000010541.4

Allele description [Variation Report for NM_003179.3(SYP):c.649G>C (p.Gly217Arg)]

NM_003179.3(SYP):c.649G>C (p.Gly217Arg)

Gene:
SYP:synaptophysin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_003179.3(SYP):c.649G>C (p.Gly217Arg)
HGVS:
  • NC_000023.11:g.49191730C>G
  • NG_012532.1:g.13475G>C
  • NM_003179.3:c.649G>CMANE SELECT
  • NP_003170.1:p.Gly217Arg
  • NC_000023.10:g.49048187C>G
  • P08247:p.Gly217Arg
Protein change:
G217R; GLY217ARG
Links:
UniProtKB: P08247#VAR_062986; OMIM: 313475.0004; dbSNP: rs137852561
NCBI 1000 Genomes Browser:
rs137852561
Molecular consequence:
  • NM_003179.3:c.649G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Intellectual disability, X-linked 96 (XLID96)
Synonyms:
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 96
Identifiers:
MONDO: MONDO:0010429; MedGen: C3275408; Orphanet: 777; OMIM: 300802

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000030767OMIM
no assertion criteria provided
Pathogenic
(May 1, 2009) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, et al.

Nat Genet. 2009 May;41(5):535-43. doi: 10.1038/ng.367. Epub 2009 Apr 19.

PubMed [citation]
PMID:
19377476
PMCID:
PMC2872007

Details of each submission

From OMIM, SCV000030767.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a large 4-generation pedigree segregating X-linked intellectual developmental disorder-96 (XLID96; 300802), Tarpey et al. (2009) identified a G-to-C transversion at nucleotide 649 of the SYP gene, resulting in a gly-to-arg substitution at codon 217 (G217R). The mutation segregated with the phenotype and was not detected in any unaffected male family members. In addition to X-linked mental retardation, some affected individuals manifested epilepsy.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023