NM_001111125.3(IQSEC2):c.848del (p.Gly283fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 29, 2023
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:: RCV003332234.1

Allele description [Variation Report for NM_001111125.3(IQSEC2):c.848del (p.Gly283fs)]

NM_001111125.3(IQSEC2):c.848del (p.Gly283fs)

Gene:

IQSEC2:IQ motif and Sec7 domain ArfGEF 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xp11.22

Genomic location:

Preferred name:

NM_001111125.3(IQSEC2):c.848del (p.Gly283fs)

HGVS:

NC_000023.10:g.53285133del
NC_000023.11:g.53255956del
NG_021296.2:g.70400del
NM_001111125.1:c.848del
NM_001111125.3:c.848delMANE SELECT
NM_015075.2:c.233del
NP_001104595.1:p.Gly283fs
NP_055890.1:p.Gly78fs
LRG_1194t1:c.848del
LRG_1194:g.70400del
LRG_1194p1:p.Gly283fs
NC_000023.10:g.53285133del
NC_000023.10:g.53285133delC
NC_000023.10:g.53285138del
NM_001111125.2:c.848del
NM_001111125.2:c.848delG

Protein change:

G283fs

Links:

dbSNP: rs782660318

NCBI 1000 Genomes Browser:

rs782660318

Molecular consequence:

NM_001111125.3:c.848del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015075.2:c.233del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004039707	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Sep 29, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004039707

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Sep 29, 2023)

germline

clinical testing

Citation Link

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

Details of each submission

From GeneDx, SCV004039707.1

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34070668)

#	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: Sep 29, 2024

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