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NM_001953.5(TYMP):c.1308dup (p.Trp437fs) AND Mitochondrial DNA depletion syndrome 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 10, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000669866.10

Allele description [Variation Report for NM_001953.5(TYMP):c.1308dup (p.Trp437fs)]

NM_001953.5(TYMP):c.1308dup (p.Trp437fs)

Genes:
LOC130067862:ATAC-STARR-seq lymphoblastoid silent region 13986 [Gene]
SCO2:synthesis of cytochrome C oxidase 2 [Gene - OMIM - HGNC]
TYMP:thymidine phosphorylase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_001953.5(TYMP):c.1308dup (p.Trp437fs)
HGVS:
  • NC_000022.11:g.50525915dup
  • NG_011860.1:g.9175dup
  • NG_016235.1:g.5529dup
  • NG_021419.1:g.22700dup
  • NG_202277.1:g.236dup
  • NM_001113755.3:c.1308dup
  • NM_001113756.3:c.1308dup
  • NM_001169109.2:c.-14+335dup
  • NM_001169110.1:c.-14+90dup
  • NM_001257988.1:c.1308dup
  • NM_001257989.1:c.1323dup
  • NM_001953.5:c.1308dupMANE SELECT
  • NP_001107227.1:p.Trp437fs
  • NP_001107228.1:p.Trp437fs
  • NP_001244917.1:p.Trp437fs
  • NP_001244918.1:p.Trp442fs
  • NP_001944.1:p.Trp437fs
  • LRG_727t1:c.1308dup
  • LRG_727t2:c.1323dup
  • LRG_727:g.9175dup
  • LRG_727p1:p.Trp437fs
  • LRG_727p2:p.Trp442fs
  • NC_000022.10:g.50964344dup
  • NM_001257989.1:c.1323dupC
Protein change:
W437fs
Links:
dbSNP: rs1471478620
NCBI 1000 Genomes Browser:
rs1471478620
Molecular consequence:
  • NM_001113755.3:c.1308dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001113756.3:c.1308dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257988.1:c.1308dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257989.1:c.1323dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001953.5:c.1308dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001169109.2:c.-14+335dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001169110.1:c.-14+90dup - intron variant - [Sequence Ontology: SO:0001627]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000794659Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Oct 10, 2017) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000794659.1

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

Last Updated: Nov 10, 2024