NM_001111125.3(IQSEC2):c.2990T>G (p.Val997Gly) AND Neurodevelopmental disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 16, 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:: RCV002277643.1

Allele description [Variation Report for NM_001111125.3(IQSEC2):c.2990T>G (p.Val997Gly)]

NM_001111125.3(IQSEC2):c.2990T>G (p.Val997Gly)

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.2990T>G (p.Val997Gly)

HGVS:

NC_000023.11:g.53241809A>C
NG_021296.2:g.84542T>G
NM_001111125.3:c.2990T>GMANE SELECT
NM_015075.2:c.2375T>G
NP_001104595.1:p.Val997Gly
NP_055890.1:p.Val792Gly
LRG_1194t1:c.2990T>G
LRG_1194:g.84542T>G
LRG_1194p1:p.Val997Gly
NC_000023.10:g.53270991A>C

Protein change:

V792G

Links:

dbSNP: rs2147049357

NCBI 1000 Genomes Browser:

rs2147049357

Molecular consequence:

NM_001111125.3:c.2990T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_015075.2:c.2375T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neurodevelopmental disorder
Identifiers:: MONDO: MONDO:0700092; MeSH: D065886; MedGen: C1535926

Recent activity

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host cell factor 1 isoform X1 [Vespa velutina]
host cell factor 1 isoform X1 [Vespa velutina]
gi|2218491721|ref|XP_047369009.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002564447	Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 16, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002564447

Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 16, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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

Details of each submission

From Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes, SCV002564447.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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