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NM_021224.6(ZNF462):c.1552del (p.Val518fs) AND Weiss-Kruszka syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000986128.1

Allele description [Variation Report for NM_021224.6(ZNF462):c.1552del (p.Val518fs)]

NM_021224.6(ZNF462):c.1552del (p.Val518fs)

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.1552del (p.Val518fs)
HGVS:
  • NC_000009.12:g.106925464del
  • NG_052913.1:g.67368del
  • NM_001347997.2:c.1552del
  • NM_021224.6:c.1552delMANE SELECT
  • NP_001334926.1:p.Val518fs
  • NP_067047.4:p.Val518fs
  • NC_000009.11:g.109687744delG
  • NC_000009.11:g.109687745del
Protein change:
V518fs
Links:
dbSNP: rs1588064794
NCBI 1000 Genomes Browser:
rs1588064794
Molecular consequence:
  • NM_001347997.2:c.1552del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_021224.6:c.1552del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Weiss-Kruszka syndrome
Identifiers:
MONDO: MONDO:0032836; MedGen: C5231429; OMIM: 618619

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001135022Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Pathogenic
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV001135022.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024