NM_018094.5(GSPT2):c.1021G>A (p.Val341Ile) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
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:: RCV000416451.1

Allele description [Variation Report for NM_018094.5(GSPT2):c.1021G>A (p.Val341Ile)]

NM_018094.5(GSPT2):c.1021G>A (p.Val341Ile)

Gene:

GSPT2:G1 to S phase transition 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.22

Genomic location:

Preferred name:

NM_018094.5(GSPT2):c.1021G>A (p.Val341Ile)

HGVS:

NC_000023.11:g.51744647G>A
NG_016857.1:g.6263G>A
NM_018094.5:c.1021G>AMANE SELECT
NP_060564.2:p.Val341Ile
NC_000023.10:g.51487743G>A
NM_018094.4:c.1021G>A

Protein change:

V341I

Links:

dbSNP: rs1057519440

NCBI 1000 Genomes Browser:

rs1057519440

Molecular consequence:

NM_018094.5:c.1021G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autism (AUTS)
Synonyms:: Autistic disorder; Autistic disorder of childhood onset
Identifiers:: MONDO: MONDO:0005260; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717

Name:: Seizure
Synonyms:: Seizures
Identifiers:: MedGen: C0036572; Human Phenotype Ontology: HP:0001250

Name:: Delayed speech and language development
Identifiers:: MedGen: C0454644; Human Phenotype Ontology: HP:0000750

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000494165	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	no assertion criteria provided	Pathogenic	de novo	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000494165

Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

no assertion criteria provided

Pathogenic

de novo

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000494165.1

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

Description

This variant has been identified in an individual with autism spectrum disorder, speech delay, seizures.

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

Last Updated: Jun 24, 2022

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