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NM_021224.6(ZNF462):c.3047G>A (p.Cys1016Tyr) AND Weiss-kruszka syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 8, 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:
RCV002277751.1

Allele description [Variation Report for NM_021224.6(ZNF462):c.3047G>A (p.Cys1016Tyr)]

NM_021224.6(ZNF462):c.3047G>A (p.Cys1016Tyr)

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.3047G>A (p.Cys1016Tyr)
Other names:
p.Cys1016Tyr
HGVS:
  • NC_000009.12:g.106926959G>A
  • NG_052913.1:g.68863G>A
  • NM_001347997.2:c.3047G>A
  • NM_021224.6:c.3047G>AMANE SELECT
  • NP_001334926.1:p.Cys1016Tyr
  • NP_067047.4:p.Cys1016Tyr
  • NC_000009.11:g.109689240G>A
Protein change:
C1016Y
Links:
dbSNP: rs1422121486
NCBI 1000 Genomes Browser:
rs1422121486
Molecular consequence:
  • NM_001347997.2:c.3047G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021224.6:c.3047G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002564631Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 8, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics, SCV002564631.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

A heterozygous missense variation in exon3 of ZNF462 gene result in the amino acid substitution of tyrosine for cysteine at codon 1016 was detected. The p.Cys1016Tyr variants has not been reported in the 1000 genomes and gnomAD database. The in silico prediction of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by LRT and MutationTaster2. The reference codon is conserved across species.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023