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NM_021224.6(ZNF462):c.1444T>C (p.Ser482Pro) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 13, 2022
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:
RCV003126988.1

Allele description [Variation Report for NM_021224.6(ZNF462):c.1444T>C (p.Ser482Pro)]

NM_021224.6(ZNF462):c.1444T>C (p.Ser482Pro)

Gene:
ZNF462:zinc finger protein 462 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q31.2
Genomic location:
Preferred name:
NM_021224.6(ZNF462):c.1444T>C (p.Ser482Pro)
HGVS:
  • NC_000009.12:g.106925356T>C
  • NG_052913.1:g.67260T>C
  • NM_001347997.2:c.1444T>C
  • NM_021224.6:c.1444T>CMANE SELECT
  • NP_001334926.1:p.Ser482Pro
  • NP_067047.4:p.Ser482Pro
  • NC_000009.11:g.109687637T>C
  • NM_021224.4:c.1444T>C
Protein change:
S482P
Molecular consequence:
  • NM_001347997.2:c.1444T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021224.6:c.1444T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003803181GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Aug 13, 2022) 		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, SCV003803181.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Feb 25, 2023