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NM_133444.3(ZNF526):c.1583A>G (p.Tyr528Cys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 3, 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:
RCV003159416.1

Allele description [Variation Report for NM_133444.3(ZNF526):c.1583A>G (p.Tyr528Cys)]

NM_133444.3(ZNF526):c.1583A>G (p.Tyr528Cys)

Gene:
ZNF526:zinc finger protein 526 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_133444.3(ZNF526):c.1583A>G (p.Tyr528Cys)
HGVS:
  • NC_000019.10:g.42225986A>G
  • NG_053183.1:g.10716A>G
  • NM_001314033.3:c.1583A>G
  • NM_133444.3:c.1583A>GMANE SELECT
  • NP_001300962.1:p.Tyr528Cys
  • NP_597701.1:p.Tyr528Cys
  • NC_000019.9:g.42730138A>G
  • NM_133444.1:c.1583A>G
Protein change:
Y528C
Molecular consequence:
  • NM_001314033.3:c.1583A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133444.3:c.1583A>G - 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
SCV003853021GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Oct 3, 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, SCV003853021.1

#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 has a deleterious effect on 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: Apr 9, 2023