NM_021224.6(ZNF462):c.2748_2749insT (p.Asn917Ter) AND Weiss-kruszka syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 28, 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:: RCV003127439.1

Allele description [Variation Report for NM_021224.6(ZNF462):c.2748_2749insT (p.Asn917Ter)]

NM_021224.6(ZNF462):c.2748_2749insT (p.Asn917Ter)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

9q31.2

Genomic location:

Preferred name:

NM_021224.6(ZNF462):c.2748_2749insT (p.Asn917Ter)

HGVS:

NC_000009.12:g.106926660_106926661insT
NG_052913.1:g.68564_68565insT
NM_001347997.2:c.2748_2749insT
NM_021224.6:c.2748_2749insTMANE SELECT
NP_001334926.1:p.Asn917Ter
NP_067047.4:p.Asn917Ter
NC_000009.11:g.109688941_109688942insT

Protein change:

N917*

Molecular consequence:

NM_001347997.2:c.2748_2749insT - nonsense - [Sequence Ontology: SO:0001587]
NM_021224.6:c.2748_2749insT - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003804021	Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 28, 2022)	paternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003804021

Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Nov 28, 2022)

paternal

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	paternal	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine, SCV003804021.1

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

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

Last Updated: Feb 25, 2023

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