NM_000485.3(APRT):c.359G>T (p.Gly120Val) 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:: RCV001269449.1

Allele description [Variation Report for NM_000485.3(APRT):c.359G>T (p.Gly120Val)]

NM_000485.3(APRT):c.359G>T (p.Gly120Val)

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.359G>T (p.Gly120Val)

HGVS:

NC_000016.10:g.88810111C>A
NG_008013.1:g.6824G>T
NG_028266.1:g.11334C>A
NM_000485.3:c.359G>TMANE SELECT
NM_001030018.2:c.359G>T
NP_000476.1:p.Gly120Val
NP_001025189.1:p.Gly120Val
NC_000016.9:g.88876519C>A
NM_000485.2:c.359G>T

Protein change:

G120V

Links:

dbSNP: rs776948275

NCBI 1000 Genomes Browser:

rs776948275

Molecular consequence:

NM_000485.3:c.359G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001030018.2:c.359G>T - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001449091	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	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001449091

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

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	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Litiasis due to 2,8-dihydroxyadenine, usefulness of the genetic study.

Jiménez Herrero MC, Petkov Stoyanov V, Gutiérrez Sánchez MJ, Martín Navarro JA.

Nefrologia (Engl Ed). 2019 Mar - Apr;39(2):206-207. doi: 10.1016/j.nefro.2018.08.002. Epub 2018 Oct 30. English, Spanish. No abstract available.

PubMed [citation]

PMID:: 30389108

Details of each submission

From APRT Deficiency Research Program of the Rare Kidney Stone Consortium, Landspitali, National University Hospital of Iceland, SCV001449091.1

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

#	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: Oct 29, 2022

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