NM_001083961.2(WDR62):c.4264_4265delinsGTGGTCTGAG (p.His1422delinsValValTer) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 21, 2024
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:: RCV000480506.3

Allele description [Variation Report for NM_001083961.2(WDR62):c.4264_4265delinsGTGGTCTGAG (p.His1422delinsValValTer)]

NM_001083961.2(WDR62):c.4264_4265delinsGTGGTCTGAG (p.His1422delinsValValTer)

Gene:

WDR62:WD repeat domain 62 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

19q13.12

Genomic location:

Preferred name:

NM_001083961.2(WDR62):c.4264_4265delinsGTGGTCTGAG (p.His1422delinsValValTer)

HGVS:

NC_000019.10:g.36104628_36104629delinsGTGGTCTGAG
NG_028101.1:g.54748_54749delinsGTGGTCTGAG
NM_001083961.2:c.4264_4265delinsGTGGTCTGAGMANE SELECT
NM_173636.5:c.4249_4250delinsGTGGTCTGAG
NP_001077430.1:p.His1422delinsValValTer
NP_775907.4:p.His1417delinsValValTer
NC_000019.9:g.36595530_36595531delinsGTGGTCTGAG
NM_001083961.1:c.4264_4265delCAinsGTGGTCTGAG
NM_001083961.1:c.4264_4265delinsGTGGTCTGAG

Links:

dbSNP: rs1064793462

NCBI 1000 Genomes Browser:

rs1064793462

Molecular consequence:

NM_001083961.2:c.4264_4265delinsGTGGTCTGAG - nonsense - [Sequence Ontology: SO:0001587]
NM_173636.5:c.4249_4250delinsGTGGTCTGAG - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000566186	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Aug 21, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000566186

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Aug 21, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000566186.4

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

Description

Frameshift variant predicted to result in abnormal protein length as the last 102 amino acids are replaced with 2 different amino acids, and other similar variants have been reported in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Sep 29, 2024

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