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NM_002693.3(POLG):c.3293A>T (p.Asn1098Ile) AND Progressive sclerosing poliodystrophy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 1, 2018
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:
RCV000758469.1

Allele description [Variation Report for NM_002693.3(POLG):c.3293A>T (p.Asn1098Ile)]

NM_002693.3(POLG):c.3293A>T (p.Asn1098Ile)

Genes:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
POLGARF:POLG alternative reading frame [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.3(POLG):c.3293A>T (p.Asn1098Ile)
HGVS:
  • NC_000015.10:g.89318730T>A
  • NG_008218.2:g.21066A>T
  • NG_011736.1:g.79768T>A
  • NM_001126131.2:c.3293A>T
  • NM_002693.3:c.3293A>TMANE SELECT
  • NP_001119603.1:p.Asn1098Ile
  • NP_002684.1:p.Asn1098Ile
  • NP_002684.1:p.Asn1098Ile
  • LRG_765t1:c.3293A>T
  • LRG_500:g.79768T>A
  • LRG_765:g.21066A>T
  • LRG_765p1:p.Asn1098Ile
  • NC_000015.9:g.89861961T>A
  • NM_002693.2:c.3293A>T
Protein change:
N1098I
Links:
dbSNP: rs587780421
NCBI 1000 Genomes Browser:
rs587780421
Molecular consequence:
  • NM_001126131.2:c.3293A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002693.3:c.3293A>T - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000887182Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 1, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine, SCV000887182.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The NM_002693.2:c.3293A>T (NP_002684.1:p.Asn1098Ile) [GRCH38: NC_000015.10:g.89318730T>A] variant in POLG gene is interpretated to be a Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant meets the following evidence codes reported in the ACMG-guideline. PM2:This variant is absent in key population databases. PP2:This is a missense variant in POLG with a low rate of benign and high rate of pathogenic missense variations. PP3:Computational evidence/predictors indicate the variant has deleterious effect on POLG structure, function, or protein-protein interaction. Based on the evidence criteria codes applied, the variant is suggested to be Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 26, 2023