NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) AND not specified

Clinical significance:Benign (Last evaluated: Nov 21, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001289062.1

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]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001476624Athena Diagnostics Inccriteria provided, single submitter
Benign
(Nov 21, 2019)
unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot 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

Genetics of intellectual disability in consanguineous families.

Hu H, Kahrizi K, Musante L, Fattahi Z, Herwig R, Hosseini M, Oppitz C, Abedini SS, Suckow V, Larti F, Beheshtian M, Lipkowitz B, Akhtarkhavari T, Mehvari S, Otto S, Mohseni M, Arzhangi S, Jamali P, Mojahedi F, Taghdiri M, Papari E, Soltani Banavandi MJ, et al.

Mol Psychiatry. 2019 Jul;24(7):1027-1039. doi: 10.1038/s41380-017-0012-2. Epub 2018 Jan 4.

PubMed [citation]
PMID:
29302074
See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics Inc, SCV001476624.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 24, 2021

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