NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) AND History of neurodevelopmental disorder

Clinical significance:Benign (Last evaluated: Mar 31, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000718413.1

Allele description [Variation Report for NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys)]

NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys)

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.3364C>T (p.Arg1122Cys)
HGVS:
  • NC_000023.11:g.53236409G>A
  • NG_021296.2:g.89942C>T
  • NM_001111125.3:c.3364C>TMANE SELECT
  • NM_015075.2:c.2749C>T
  • NP_001104595.1:p.Arg1122Cys
  • NP_055890.1:p.Arg917Cys
  • LRG_1194t1:c.3364C>T
  • LRG_1194:g.89942C>T
  • LRG_1194p1:p.Arg1122Cys
  • NC_000023.10:g.53265591G>A
  • NM_001111125.2:c.3364C>T
Protein change:
R1122C
Links:
dbSNP: rs782697291
NCBI 1000 Genomes Browser:
rs782697291
Molecular consequence:
  • NM_001111125.3:c.3364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015075.2:c.2749C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000849276Ambry Geneticscriteria provided, single submitter
Benign
(Mar 31, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, et al.

Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048.

PubMed [citation]
PMID:
26539891
PMCID:
PMC4824012

Details of each submission

From Ambry Genetics, SCV000849276.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Aug 24, 2021

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