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NM_000485.2(APRT):c.407T>C (p.Met136Thr)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Jun 18, 2015)
Last evaluated:
Jun 18, 2015
Accession:
VCV000018296.1
Variation ID:
18296
Description:
single nucleotide variant
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NM_000485.2(APRT):c.407T>C (p.Met136Thr)

Allele ID
33335
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q24.3
Genomic location
16: 88809834 (GRCh38) GRCh38 UCSC
16: 88876242 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.9:g.88876242A>G
NC_000016.10:g.88809834A>G
NM_001030018.1:c.401-128T>C
... more HGVS
Protein change
M136T
Other names
2066T>C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
UniProtKB: P07741#VAR_006749
OMIM: 102600.0003
dbSNP: rs28999113
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Nov 1, 1996 RCV000019958.27
Pathogenic 1 no assertion criteria provided Jun 18, 2015 RCV000033908.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
APRT - - GRCh38
GRCh37
19 104

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 01, 1996)
no assertion criteria provided
Method: literature only
APRT DEFICIENCY, JAPANESE TYPE
Allele origin: germline
OMIM
Accession: SCV000040256.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (6)
Pathogenic
(Jun 18, 2015)
no assertion criteria provided
Method: literature only
Adenine phosphoribosyltransferase deficiency
Allele origin: germline
GeneReviews
Accession: SCV000057822.1
Submitted: (Jun 18, 2015)
Evidence details
Other databases
http://www.ncbi.nlm.nih.gov/bo...

Citations for this variant

Title Author Journal Year Link
Adenine Phosphoribosyltransferase Deficiency Edvardsson VO - 2015 PMID: 22934314
The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era. Kamatani N Human genetics 1996 PMID: 8882882
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. Kamatani N The Journal of clinical investigation 1992 PMID: 1353080
2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus. Sahota A American journal of human genetics 1991 PMID: 1673292
Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation. Kamatani N Human genetics 1990 PMID: 2227951
Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage. Kamatani N American journal of human genetics 1989 PMID: 2502918
Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese. Hidaka Y The Journal of clinical investigation 1988 PMID: 3343350
http://www.ncbi.nlm.nih.gov/books/NBK100238/ - - - -

Record last updated Jul 02, 2019