NM_015021.3(ZNF292):c.1408A>G (p.Ile470Val) AND Neurodevelopmental disorder

Germline classification:: Uncertain significance (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:: RCV001261756.1

Allele description [Variation Report for NM_015021.3(ZNF292):c.1408A>G (p.Ile470Val)]

NM_015021.3(ZNF292):c.1408A>G (p.Ile470Val)

Gene:

ZNF292:zinc finger protein 292 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q14.3

Genomic location:

Preferred name:

NM_015021.3(ZNF292):c.1408A>G (p.Ile470Val)

Other names:

p.I470V

HGVS:

NC_000006.12:g.87255037A>G
NG_054887.1:g.104487A>G
NM_001351444.2:c.988A>G
NM_015021.3:c.1408A>GMANE SELECT
NP_001338373.1:p.Ile330Val
NP_055836.1:p.Ile470Val
NC_000006.11:g.87964755A>G
NM_015021.1:c.1408A>G
NM_015021.2:c.1408A>G

Protein change:

I330V

Links:

dbSNP: rs1166797338

Molecular consequence:

NM_001351444.2:c.988A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_015021.3:c.1408A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001439072	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Uncertain significance	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001439072

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Uncertain significance

de novo

research

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	de novo	yes	2	not provided	not provided	not provided	not provided	research

Citations

PubMed

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, et al.

Genet Med. 2020 Mar;22(3):538-546. doi: 10.1038/s41436-019-0693-9. Epub 2019 Nov 14.

PubMed [citation]

PMID:: 31723249
PMCID:: PMC7060121

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001439072.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	research	PubMed (1)

#	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		2	not provided	not provided	not provided

Last Updated: Apr 13, 2025

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