NM_015021.3(ZNF292):c.1408A>G (p.Ile470Val) AND Intellectual developmental disorder, autosomal dominant 64

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 14, 2023
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:: RCV003992374.2

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]

Observations:

Condition(s)

Name:: Intellectual developmental disorder, autosomal dominant 64
Synonyms:: MENTAL RETARDATION, AUTOSOMAL DOMINANT 64
Identifiers:: MONDO: MONDO:0030934; MedGen: C5543067; OMIM: 619188

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004812037	Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN	no assertion criteria provided	Likely pathogenic (Dec 14, 2023)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004812037

Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN

no assertion criteria provided

Likely pathogenic
(Dec 14, 2023)

de novo

clinical testing

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	clinical testing

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV004812037.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	Blood	not provided		2	not provided	not provided	not provided

Last Updated: Apr 13, 2025

ClinVar

Relating variation to medicine