U.S. flag

An official website of the United States government

NM_001083961.2(WDR62):c.1821dup (p.Arg608fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 25, 2023
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:
RCV001008125.2

Allele description [Variation Report for NM_001083961.2(WDR62):c.1821dup (p.Arg608fs)]

NM_001083961.2(WDR62):c.1821dup (p.Arg608fs)

Gene:
WDR62:WD repeat domain 62 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19q13.12
Genomic location:
Preferred name:
NM_001083961.2(WDR62):c.1821dup (p.Arg608fs)
HGVS:
  • NC_000019.10:g.36089090dup
  • NG_028101.1:g.39210dup
  • NM_001083961.1:c.1821dup
  • NM_001083961.2:c.1821dupMANE SELECT
  • NM_173636.5:c.1821dup
  • NP_001077430.1:p.Arg608fs
  • NP_775907.4:p.Arg608fs
  • NC_000019.9:g.36579992dup
  • NM_001083961.1:c.1821dupT
Protein change:
R608fs
Links:
dbSNP: rs1213710245
NCBI 1000 Genomes Browser:
rs1213710245
Molecular consequence:
  • NM_001083961.2:c.1821dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_173636.5:c.1821dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001167881GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Mar 25, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001167881.2

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28756000, 25303973, 26582918, 24479948, 27535533)

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

Last Updated: Jun 23, 2024