NM_001953.4(TYMP):c.1395_1400delGCCATT (p.Pro466_Phe467del) AND Mitochondrial DNA depletion syndrome 1 (MNGIE type)

Clinical significance:Pathogenic (Last evaluated: Jan 14, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000208631.1

Allele description [Variation Report for NM_001953.4(TYMP):c.1395_1400delGCCATT (p.Pro466_Phe467del)]

NM_001953.4(TYMP):c.1395_1400delGCCATT (p.Pro466_Phe467del)

Genes:
SCO2:SCO cytochrome c oxidase assembly protein 2 [Gene - OMIM - HGNC]
TYMP:thymidine phosphorylase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_001953.4(TYMP):c.1395_1400delGCCATT (p.Pro466_Phe467del)
HGVS:
  • NC_000022.11:g.50525819_50525824delAATGGC
  • NM_001953.4:c.1395_1400delGCCATT
  • NP_001244917.1:p.Pro466_Phe467del
  • NP_001244918.1:p.Pro471_Phe472del
  • NP_001944.1:p.Pro466_Phe467del
  • LRG_727t1:c.1395_1400del
  • LRG_727t2:c.1410_1415del
  • LRG_727:g.9262_9267del
  • LRG_727p1:p.Pro466_Phe467del
  • LRG_727p2:p.Pro471_Phe472del
  • NC_000022.10:g.50964248_50964253delAATGGC
  • c.1394_1400delGCCATT
Links:
dbSNP: rs1064792891
NCBI 1000 Genomes Browser:
rs1064792891

Condition(s)

Name:
Mitochondrial DNA depletion syndrome 1 (MNGIE type) (MTDPS1)
Synonyms:
POLIP SYNDROME; POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED; See all synonyms [MedGen]
Identifiers:
MedGen: C4551995; Orphanet: 298; OMIM: 603041

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000264569GeneReviewsno assertion criteria providedPathogenic
(Jan 14, 2016)
germlineliterature only

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.

Garone C, Tadesse S, Hirano M.

Brain. 2011 Nov;134(Pt 11):3326-32. doi: 10.1093/brain/awr245. Epub 2011 Sep 20.

PubMed [citation]
PMID:
21933806
PMCID:
PMC3212717

Details of each submission

From GeneReviews, SCV000264569.1

#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, 2019

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