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NM_001953.5(TYMP):c.398T>C (p.Leu133Pro) AND Mitochondrial DNA depletion syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 14, 2016
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:
RCV000208677.1

Allele description [Variation Report for NM_001953.5(TYMP):c.398T>C (p.Leu133Pro)]

NM_001953.5(TYMP):c.398T>C (p.Leu133Pro)

Gene:
TYMP:thymidine phosphorylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_001953.5(TYMP):c.398T>C (p.Leu133Pro)
Other names:
Leu>Pro
HGVS:
  • NC_000022.11:g.50529155A>G
  • NG_011860.1:g.5931T>C
  • NG_016235.1:g.2285T>C
  • NM_001113755.3:c.398T>C
  • NM_001113756.3:c.398T>C
  • NM_001257988.1:c.398T>C
  • NM_001257989.1:c.398T>C
  • NM_001953.5:c.398T>CMANE SELECT
  • NP_001107227.1:p.Leu133Pro
  • NP_001107228.1:p.Leu133Pro
  • NP_001244917.1:p.Leu133Pro
  • NP_001244918.1:p.Leu133Pro
  • NP_001944.1:p.Leu133Pro
  • LRG_727t1:c.398T>C
  • LRG_727t2:c.398T>C
  • LRG_727:g.5931T>C
  • LRG_727p1:p.Leu133Pro
  • LRG_727p2:p.Leu133Pro
  • NC_000022.10:g.50967584A>G
  • NM_001953.4:c.398T>C
  • c.398T>C
Protein change:
L133P
Links:
dbSNP: rs1064792862
NCBI 1000 Genomes Browser:
rs1064792862
Molecular consequence:
  • NM_001113755.3:c.398T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001113756.3:c.398T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257988.1:c.398T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257989.1:c.398T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001953.5:c.398T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mitochondrial DNA depletion syndrome 1
Synonyms:
POLIP SYNDROME; POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011283; MedGen: C4551995; Orphanet: 298; OMIM: 603041

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000264507GeneReviews
no assertion criteria provided
Pathogenic
(Jan 14, 2016) 		germlineliterature only

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 gene.

Monroy N, Macías Kauffer LR, Mutchinick OM.

Eur J Med Genet. 2008 May-Jun;51(3):245-50. doi: 10.1016/j.ejmg.2007.12.007. Epub 2008 Jan 9.

PubMed [citation]
PMID:
18280229

Details of each submission

From GeneReviews, SCV000264507.1

#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: Mar 30, 2024