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NM_001953.4(TYMP):c.929-6_929-3del AND Mitochondrial neurogastrointestinal encephalomyopathy

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 26, 2019
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:
RCV001272325.10

Allele description [Variation Report for NM_001953.4(TYMP):c.929-6_929-3del]

NM_001953.4(TYMP):c.929-6_929-3del

Genes:
SCO2:synthesis of cytochrome C oxidase 2 [Gene - OMIM - HGNC]
LOC130067862:ATAC-STARR-seq lymphoblastoid silent region 13986 [Gene]
TYMP:thymidine phosphorylase [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_001953.4(TYMP):c.929-6_929-3del
HGVS:
  • NC_000022.10:g.50964913_50964916del
  • NC_000022.11:g.50526480CGGG[1]
  • NG_011860.1:g.8600CCGC[1]
  • NG_016235.1:g.4954CCGC[1]
  • NG_021419.1:g.23265CGGG[1]
  • NG_202277.1:g.801CGGG[1]
  • NM_001113755.3:c.929-6_929-3del
  • NM_001113756.3:c.929-6_929-3del
  • NM_001257988.1:c.929-6_929-3del
  • NM_001257989.1:c.929-6_929-3del
  • NM_001953.5:c.929-6_929-3delMANE SELECT
  • LRG_727t1:c.929-6_929-3del
  • LRG_727t2:c.929-6_929-3del
  • LRG_727:g.8600CCGC[1]
  • NC_000022.10:g.50964908_50964911del
  • NC_000022.10:g.50964908_50964911delGCGG
  • NC_000022.10:g.50964909CGGG[1]
  • NC_000022.10:g.50964913_50964916del
  • NC_000022.10:g.50964913_50964916delCGGG
  • NC_000022.10:g.50964913_50964916delCGGG
  • NM_001113756.2:c.929-6_929-3delCCGC
  • NM_001169109.1:c.-250_-247del
  • NM_001257989.1:c.929-6_929-3delCCGC
  • NM_001953.3:c.929-6_929-3delCCGC
  • NM_001953.4:c.929-6_929-3del
  • NM_001953.4:c.929-6_929-3delCCGC
  • NM_001953.5:c.929-6_929-3delCCGCMANE SELECT
  • c.929-3_929-6delCCGC
Links:
dbSNP: rs201685922
NCBI 1000 Genomes Browser:
rs201685922
Molecular consequence:
  • NM_001113755.3:c.929-6_929-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001113756.3:c.929-6_929-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001257988.1:c.929-6_929-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001257989.1:c.929-6_929-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001953.5:c.929-6_929-3del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Mitochondrial neurogastrointestinal encephalomyopathy
Synonyms:
Mitochondrial neurogastrointestinal encephalopathy syndrome; MNGIE syndrome; Thymidine phosphorylase deficiency
Identifiers:
MONDO: MONDO:0017575; MedGen: C0872218; Orphanet: 298

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001454200Natera, Inc.
no assertion criteria provided
Benign
(Dec 26, 2019) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV001454200.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024