NM_001953.5(TYMP):c.530T>C (p.Leu177Pro) 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:: RCV000208713.1

Allele description [Variation Report for NM_001953.5(TYMP):c.530T>C (p.Leu177Pro)]

NM_001953.5(TYMP):c.530T>C (p.Leu177Pro)

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.530T>C (p.Leu177Pro)

Other names:

Leu>Pro

HGVS:

NC_000022.11:g.50527704A>G
NG_011860.1:g.7382T>C
NG_016235.1:g.3736T>C
NM_001113755.3:c.530T>C
NM_001113756.3:c.530T>C
NM_001257988.1:c.530T>C
NM_001257989.1:c.530T>C
NM_001953.5:c.530T>CMANE SELECT
NP_001107227.1:p.Leu177Pro
NP_001107228.1:p.Leu177Pro
NP_001244917.1:p.Leu177Pro
NP_001244918.1:p.Leu177Pro
NP_001944.1:p.Leu177Pro
LRG_727t1:c.530T>C
LRG_727t2:c.530T>C
LRG_727:g.7382T>C
LRG_727p1:p.Leu177Pro
LRG_727p2:p.Leu177Pro
NC_000022.10:g.50966133A>G
NM_001953.4:c.530T>C
c.530T>C

Protein change:

L177P

Links:

dbSNP: rs1064792866

NCBI 1000 Genomes Browser:

rs1064792866

Molecular consequence:

NM_001113755.3:c.530T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001113756.3:c.530T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001257988.1:c.530T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001257989.1:c.530T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001953.5:c.530T>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000264514	GeneReviews	no assertion criteria provided	Pathogenic (Jan 14, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000264514

GeneReviews

no assertion criteria provided

Pathogenic
(Jan 14, 2016)

germline

literature only

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.

Hirano M, Nishigaki Y, Martí R.

Neurologist. 2004 Jan;10(1):8-17. Review.

PubMed [citation]

PMID:: 14720311

Details of each submission

From GeneReviews, SCV000264514.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 30, 2024

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