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NM_001367624.2(ZNF469):c.334G>A (p.Ala112Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 29, 2017
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:
RCV000521637.1

Allele description [Variation Report for NM_001367624.2(ZNF469):c.334G>A (p.Ala112Thr)]

NM_001367624.2(ZNF469):c.334G>A (p.Ala112Thr)

Gene:
ZNF469:zinc finger protein 469 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.2
Genomic location:
Preferred name:
NM_001367624.2(ZNF469):c.334G>A (p.Ala112Thr)
Other names:
NM_001127464.1:c.334G>A; NM_001127464.2:c.334G>A
HGVS:
  • NC_000016.10:g.88427804G>A
  • NG_012236.2:g.5334G>A
  • NM_001367624.2:c.334G>AMANE SELECT
  • NP_001354553.1:p.Ala112Thr
  • NC_000016.9:g.88494212G>A
Protein change:
A112T
Links:
dbSNP: rs766853024
NCBI 1000 Genomes Browser:
rs766853024
Molecular consequence:
  • NM_001367624.2:c.334G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000620365GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Aug 29, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000620365.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

A variant of uncertain significance has been identified in the ZNF469 gene. The A112T variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A112T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species and where threonine (T) is present as the wild type in several species. In silico analysis predicts this variant likely does not alter the protein structure/function.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 16, 2024