NM_021224.6(ZNF462):c.5193_5195del (p.Ala1732del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 4, 2023
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:: RCV003314916.2

Allele description [Variation Report for NM_021224.6(ZNF462):c.5193_5195del (p.Ala1732del)]

NM_021224.6(ZNF462):c.5193_5195del (p.Ala1732del)

Gene:

ZNF462:zinc finger protein 462 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q31.2

Genomic location:

Preferred name:

NM_021224.6(ZNF462):c.5193_5195del (p.Ala1732del)

HGVS:

NC_000009.12:g.106929105_106929107del
NG_052913.1:g.71009_71011del
NM_001347997.2:c.3253-1420_3253-1418del
NM_021224.6:c.5193_5195delMANE SELECT
NP_067047.4:p.Ala1732del
NC_000009.11:g.109691386_109691388del
NM_021224.4:c.5193_5195del

Protein change:

A1732del

Molecular consequence:

NM_021224.6:c.5193_5195del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001347997.2:c.3253-1420_3253-1418del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004014320	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Oct 4, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004014320

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Oct 4, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV004014320.2

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown; Has not been previously published as pathogenic or benign to our knowledge; De novo variant with confirmed parentage in a patient referred for genetic testing at GeneDx; however, the reported clinical features are only partially consistent with the features typically observed in individuals with pathogenic variants in this gene

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

Last Updated: Nov 25, 2023

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