NM_000485.3(APRT):c.352G>C (p.Glu118Gln) AND Adenine phosphoribosyltransferase deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001269448.1

Allele description [Variation Report for NM_000485.3(APRT):c.352G>C (p.Glu118Gln)]

NM_000485.3(APRT):c.352G>C (p.Glu118Gln)

Gene:

APRT:adenine phosphoribosyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

Preferred name:

NM_000485.3(APRT):c.352G>C (p.Glu118Gln)

HGVS:

NC_000016.10:g.88810118C>G
NG_008013.1:g.6817G>C
NG_028266.1:g.11341C>G
NM_000485.3:c.352G>CMANE SELECT
NM_001030018.2:c.352G>C
NP_000476.1:p.Glu118Gln
NP_001025189.1:p.Glu118Gln
NC_000016.9:g.88876526C>G
NM_000485.2:c.352G>C

Protein change:

E118Q

Links:

dbSNP: rs370665100

NCBI 1000 Genomes Browser:

rs370665100

Molecular consequence:

NM_000485.3:c.352G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001030018.2:c.352G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Adenine phosphoribosyltransferase deficiency (APRTD)
Synonyms:: Dihydroxyadeninuria; UROLITHIASIS, 2,8-DIHYDROXYADENINE; NEPHROLITHIASIS, DHA
Identifiers:: MONDO: MONDO:0013869; MedGen: C0268120; Orphanet: 976; OMIM: 614723

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001449090	APRT Deficiency Research Program of the Rare Kidney Stone Consortium, Landspitali, National University Hospital of Iceland	no assertion criteria provided	Pathogenic (Sep 1, 2020)	germline	literature only	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001449090

APRT Deficiency Research Program of the Rare Kidney Stone Consortium, Landspitali, National University Hospital of Iceland

no assertion criteria provided

Pathogenic
(Sep 1, 2020)

germline

literature only

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	literature only

Details of each submission

From APRT Deficiency Research Program of the Rare Kidney Stone Consortium, Landspitali, National University Hospital of Iceland, SCV001449090.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	not provided

#	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

ClinVar

Relating variation to medicine