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NM_002693.3(POLG):c.502G>C (p.Ala168Pro) AND Mitochondrial neurogastrointestinal encephalomyopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 1, 2019
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:
RCV001249204.1

Allele description [Variation Report for NM_002693.3(POLG):c.502G>C (p.Ala168Pro)]

NM_002693.3(POLG):c.502G>C (p.Ala168Pro)

Genes:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
POLGARF:POLG alternative reading frame [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.3(POLG):c.502G>C (p.Ala168Pro)
HGVS:
  • NC_000015.10:g.89333253C>G
  • NG_008218.2:g.6543G>C
  • NM_001126131.2:c.502G>C
  • NM_002693.3:c.502G>CMANE SELECT
  • NP_001119603.1:p.Ala168Pro
  • NP_002684.1:p.Ala168Pro
  • LRG_765t1:c.502G>C
  • LRG_765:g.6543G>C
  • NC_000015.9:g.89876484C>G
  • NM_002693.2:c.502G>C
Protein change:
A168P
Links:
dbSNP: rs2055619068
NCBI 1000 Genomes Browser:
rs2055619068
Molecular consequence:
  • NM_001126131.2:c.502G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002693.3:c.502G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001422458The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Dec 1, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University, SCV001422458.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 6, 2024