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NM_001111125.3(IQSEC2):c.1075C>T (p.Arg359Cys) AND Intellectual disability, X-linked 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2010
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:
RCV000011612.5

Allele description [Variation Report for NM_001111125.3(IQSEC2):c.1075C>T (p.Arg359Cys)]

NM_001111125.3(IQSEC2):c.1075C>T (p.Arg359Cys)

Gene:
IQSEC2:IQ motif and Sec7 domain ArfGEF 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.22
Genomic location:
Preferred name:
NM_001111125.3(IQSEC2):c.1075C>T (p.Arg359Cys)
HGVS:
  • NC_000023.11:g.53254856G>A
  • NG_021296.2:g.71495C>T
  • NM_001111125.3:c.1075C>TMANE SELECT
  • NM_015075.2:c.460C>T
  • NP_001104595.1:p.Arg359Cys
  • NP_055890.1:p.Arg154Cys
  • LRG_1194t1:c.1075C>T
  • LRG_1194:g.71495C>T
  • LRG_1194p1:p.Arg359Cys
  • NC_000023.10:g.53284038G>A
Protein change:
R154C; ARG359CYS
Links:
OMIM: 300522.0004; dbSNP: rs267607188
NCBI 1000 Genomes Browser:
rs267607188
Molecular consequence:
  • NM_001111125.3:c.1075C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015075.2:c.460C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Intellectual disability, X-linked 1 (XLID1)
Synonyms:
Mental retardation, X-linked, nonspecific; Atkin Flaitz Patil Smith syndrome; MENTAL RETARDATION, X-LINKED 18; See all synonyms [MedGen]
Identifiers:
Gene: 170530; MONDO: MONDO:0010656; MedGen: C2931498; Orphanet: 777; OMIM: 309530

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000031844OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 2010) 		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

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.

Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A, Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Futreal PA, Stratton MR, Gécz J.

Nat Genet. 2010 Jun;42(6):486-8. doi: 10.1038/ng.588. Epub 2010 May 16.

PubMed [citation]
PMID:
20473311
PMCID:
PMC3632837

Details of each submission

From OMIM, SCV000031844.2

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

Description

In affected members of an Australian family with X-linked intellectual developmental disorder-1 (XLID1; 309530), Shoubridge et al. (2010) identified a 1075C-T transition in exon 4 of the IQSEC2 gene, resulting in an arg359-to-cys (R359C) substitution affecting a conserved residue in the IQ-like domain. The mutation was not found in 1,310 control individuals. In vitro functional expression studies showed that the mutant protein resulted in a decrease of GTP-bound ARF6 (600464).

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

Last Updated: May 19, 2024