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NM_000485.3(APRT):c.188-3C>G 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:
RCV001269434.1

Allele description [Variation Report for NM_000485.3(APRT):c.188-3C>G]

NM_000485.3(APRT):c.188-3C>G

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.188-3C>G
HGVS:
  • NC_000016.10:g.88810559G>C
  • NG_008013.1:g.6376C>G
  • NG_028266.1:g.11782G>C
  • NM_000485.3:c.188-3C>GMANE SELECT
  • NM_001030018.2:c.188-3C>G
  • NC_000016.9:g.88876967G>C
  • NM_000485.2:c.188-3C>G
Links:
dbSNP: rs766646831
NCBI 1000 Genomes Browser:
rs766646831
Molecular consequence:
  • NM_000485.3:c.188-3C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001030018.2:c.188-3C>G - intron variant - [Sequence Ontology: SO:0001627]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001449071APRT Deficiency Research Program of the Rare Kidney Stone Consortium, Landspitali, National University Hospital of Iceland
no assertion criteria provided
Pathogenic
(Sep 1, 2020) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Adenine phosphoribosyltransferase (APRT) deficiency: a new genetic mutation with early recurrent renal stone disease in kidney transplantation.

Micheli V, Massarino F, Jacomelli G, Bertelli M, Corradi MR, Guerrini A, Cucchiara A, Ravetti JL, Negretti L, Cannella G.

NDT Plus. 2010 Oct;3(5):436-8. doi: 10.1093/ndtplus/sfq096. Epub 2010 Jun 2.

PubMed [citation]
PMID:
25984046
PMCID:
PMC4421695

Details of each submission

From APRT Deficiency Research Program of the Rare Kidney Stone Consortium, Landspitali, National University Hospital of Iceland, SCV001449071.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 29, 2022