NM_015021.3(ZNF292):c.1408A>G (p.Ile470Val) AND not provided

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000709976.2

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]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000840341	GenomeConnect, ClinGen	no classification provided	not provided	de novo	phenotyping only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000840341

GenomeConnect, ClinGen

no classification provided

not provided

de novo

phenotyping only

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	unknown	not provided	not provided	not provided	not provided	not provided	phenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000840341.2

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

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Apr 13, 2025

ClinVar

Relating variation to medicine