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NM_000485.3(APRT):c.188-145_296delinsTTCCCGTA AND Adenine phosphoribosyltransferase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 1997
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:
RCV000019963.28

Allele description [Variation Report for NM_000485.3(APRT):c.188-145_296delinsTTCCCGTA]

NM_000485.3(APRT):c.188-145_296delinsTTCCCGTA

Gene:
APRT:adenine phosphoribosyltransferase [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_000485.3(APRT):c.188-145_296delinsTTCCCGTA
HGVS:
  • NC_000016.10:g.88810448_88810701delinsTACGGGAA
  • NG_008013.1:g.6234_6487delinsTTCCCGTA
  • NG_028266.1:g.11671_11924delinsTACGGGAA
  • NM_000485.3:c.188-145_296delinsTTCCCGTAMANE SELECT
  • NM_001030018.2:c.188-145_296delinsTTCCCGTA
  • NC_000016.9:g.88876856_88877109delinsTACGGGAA
Note:
NCBI staff provided HGVS expressions for allelic variant 102600.0008 from the sequence reported in Figure 2 of the paper by Menardi et al., 1997 (PubMed 9298830).
Links:
OMIM: 102600.0008
Molecular consequence:
  • NM_000485.3:c.188-145_296delinsTTCCCGTA - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001030018.2:c.188-145_296delinsTTCCCGTA - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV000040261OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 1997) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair.

Menardi C, Schneider R, Neuschmid-Kaspar F, Klocker H, Hirsch-Kauffmann M, Auer B, Schweiger M.

Hum Mutat. 1997;10(3):251-5. No abstract available.

PubMed [citation]
PMID:
9298830

Details of each submission

From OMIM, SCV000040261.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Caucasian patient with complete APRT deficiency (614723), Menardi et al. (1997) found compound heterozygosity for 2 mutations in the APRT gene: a common T insertion at the IVS4 splice donor site (102600.0002) and a novel complex mutation involving simultaneous deletion/insertion and repair events. The second mutation involved a deletion of 254 bp and an insertion of 8 bp exactly at the site of the deletion. Downstream of the mutations, Menardi et al. (1997) found a 14-bp sequence of inverse complementary to this insertion and 6 flanking nucleotides. A more detailed analysis of the region where the deletion had occurred revealed several informative sequence features suitable to explain how the mutation took place.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 13, 2023