NM_002693.2(POLG):c.3667A>G (p.Ile1223Val) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000765232.1

Allele description [Variation Report for NM_002693.2(POLG):c.3667A>G (p.Ile1223Val)]

NM_002693.2(POLG):c.3667A>G (p.Ile1223Val)

Genes:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
FANCI:FA complementation group I [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.2(POLG):c.3667A>G (p.Ile1223Val)
HGVS:
  • NC_000015.10:g.89316804T>C
  • NG_008218.2:g.22992A>G
  • NG_011736.1:g.77842T>C
  • NM_001113378.1:c.*345T>C
  • NM_001126131.2:c.3667A>G
  • NM_002693.2:c.3667A>G
  • NM_018193.3:c.*345T>C
  • NP_001119603.1:p.Ile1223Val
  • NP_002684.1:p.Ile1223Val
  • LRG_500t1:c.*345T>C
  • LRG_765t1:c.3667A>G
  • LRG_500:g.77842T>C
  • LRG_765:g.22992A>G
  • LRG_765p1:p.Ile1223Val
  • NC_000015.9:g.89860035T>C
Protein change:
I1223V
Links:
dbSNP: rs148786642
NCBI 1000 Genomes Browser:
rs148786642
Molecular consequence:
  • NM_001113378.1:c.*345T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_018193.3:c.*345T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126131.2:c.3667A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002693.2:c.3667A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Progressive sclerosing poliodystrophy (MTDPS4A)
Synonyms:
Alpers disease; Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis; Alpers progressive infantile poliodystrophy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008758; MedGen: C0205710; Orphanet: 726; OMIM: 203700
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:
MONDO: MONDO:0011283; MedGen: C4551995; Orphanet: 298; OMIM: 603041
Name:
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1)
Synonyms:
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1; Autosomal Dominant Progressive External Ophthalmoplegia
Identifiers:
MONDO: MONDO:0024528; MedGen: C1834846; OMIM: 157640
Name:
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 (PEOB1)
Synonyms:
Cerebellar ataxia infantile with progressive external ophthalmoplegia; Progressive external ophthalmoplegia, autosomal recessive 1
Identifiers:
MONDO: MONDO:0009783; MedGen: C4225153; Orphanet: 254886; OMIM: 258450
Name:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Synonyms:
SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE; EPILEPSY, PROGRESSIVE MYOCLONIC, 5; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011835; MedGen: C1843851; Orphanet: 254818; OMIM: 607459
Name:
Mitochondrial DNA depletion syndrome 4B, MNGIE type (MTDPS4B)
Synonyms:
MNGIE, POLG-RELATED; Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related
Identifiers:
MONDO: MONDO:0013350; MedGen: C3150914; Orphanet: 298; OMIM: 613662

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000896468Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics,Fulgent Genetics, SCV000896468.1

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

Last Updated: Sep 6, 2021

Support Center