NM_080916.3(DGUOK):c.757_759del (p.Asn253del) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 21, 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:: RCV002279303.2

Allele description [Variation Report for NM_080916.3(DGUOK):c.757_759del (p.Asn253del)]

NM_080916.3(DGUOK):c.757_759del (p.Asn253del)

Genes:

DGUOK-AS1:DGUOK antisense RNA 1 [Gene - HGNC]
DGUOK:deoxyguanosine kinase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p13.1

Genomic location:

Preferred name:

NM_080916.3(DGUOK):c.757_759del (p.Asn253del)

HGVS:

NC_000002.12:g.73958195_73958197del
NG_008044.1:g.36370_36372del
NM_001318859.2:c.475_477del
NM_001318860.2:c.466_468del
NM_001318861.2:c.466_468del
NM_001318862.2:c.448_450del
NM_001318863.2:c.448_450del
NM_080916.3:c.757_759delMANE SELECT
NM_080918.3:c.493_495del
NP_001305788.1:p.Asn159del
NP_001305789.1:p.Asn156del
NP_001305790.1:p.Asn156del
NP_001305791.1:p.Asn150del
NP_001305792.1:p.Asn150del
NP_550438.1:p.Asn253del
NP_550440.1:p.Asn165del
NC_000002.11:g.74185322_74185324del
NM_080916.1:c.757_759del
NR_104029.1:n.342_344del
NR_104030.1:n.316_318del
NR_134893.2:n.411_413del
NR_134894.2:n.559_561del
NR_134895.2:n.223_225del
NR_134896.2:n.393_395del
NR_134897.2:n.603_605del
NR_134898.2:n.527_529del

Protein change:

N150del

Links:

dbSNP: rs775276142

NCBI 1000 Genomes Browser:

rs775276142

Molecular consequence:

NM_001318859.2:c.475_477del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001318860.2:c.466_468del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001318861.2:c.466_468del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001318862.2:c.448_450del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001318863.2:c.448_450del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_080916.3:c.757_759del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_080918.3:c.493_495del - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_104029.1:n.342_344del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104030.1:n.316_318del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_134893.2:n.411_413del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_134894.2:n.559_561del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_134895.2:n.223_225del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_134896.2:n.393_395del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_134897.2:n.603_605del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_134898.2:n.527_529del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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PREDICTED: sulfate transporter [Mandrillus leucophaeus]
PREDICTED: sulfate transporter [Mandrillus leucophaeus]
gi|795161919|ref|XP_011840764.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002567432	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Aug 21, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002567432

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Aug 21, 2022)

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, SCV002567432.2

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function

#	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: May 7, 2024

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