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

Variation ID: Help
18296
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jun 18, 2015
Number of submission(s):
2
Condition(s):
  • Adenine phosphoribosyltransferase deficiency [MedGen - OMIM]
  • APRT deficiency, Japanese type [MedGen]
See supporting ClinVar records

Allele(s) Help

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

Allele ID:
33335
Variant type:
single nucleotide variant
Cytogenetic location:
16q24
Genomic location:
  • Chr16: 88809834 (on Assembly GRCh38)
  • Chr16: 88876242 (on Assembly GRCh37)
Other names:
  • 2066T>C
Protein change:
M136T
HGVS:
  • NG_008013.1:g.7101T>C
  • NM_000485.2:c.407T>C
  • NM_001030018.1:c.401-128T>C
  • NP_000476.1:p.Met136Thr
  • NC_000016.10:g.88809834A>G (GRCh38)
  • NC_000016.9:g.88876242A>G (GRCh37)
  • P07741:p.Met136Thr
Links:
NCBI 1000 Genomes Browser:
rs28999113
Molecular consequence:
  • NM_000485.2:c.407T>C: missense variant SO:0001583
  • NM_001030018.1:c.401-128T>C: intron variant SO:0001627

Variant frequency in dbGaP Help

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

GRCh37 Chr16:88876242
Called variantsPotential variants
Sample countno data0 of 38599

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Nov 1, 1996)
no assertion criteria providedliterature only
  • APRT deficiency, Japanese type[MedGen]
germlineOMIMSCV000040256.1
Pathogenic
(Jun 18, 2015)
no assertion criteria providedliterature only
  • Adenine phosphoribosyltransferase deficiency[MedGen | OMIM]
germlineGeneReviewsSCV000057822.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermlinenot providednot provided
GeneReviewsnot providednot providedgermlinenot providednot providednot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Jan 13, 2017