NM_002693.3(POLG):c.2021G>A (p.Gly674Asp) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Oct 13, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000768054.1

Allele description [Variation Report for NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)]

NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)

Gene:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)
Other names:
p.G674D:GGC>GAC
HGVS:
  • NC_000015.10:g.89324156C>T
  • NG_008218.2:g.15640G>A
  • NM_001126131.2:c.2021G>A
  • NM_002693.3:c.2021G>AMANE SELECT
  • NP_001119603.1:p.Gly674Asp
  • NP_002684.1:p.Gly674Asp
  • NP_002684.1:p.Gly674Asp
  • LRG_765t1:c.2021G>A
  • LRG_765:g.15640G>A
  • LRG_765p1:p.Gly674Asp
  • NC_000015.9:g.89867387C>T
  • NM_002693.2:c.2021G>A
Protein change:
G674D
Links:
dbSNP: rs200257554
NCBI 1000 Genomes Browser:
rs200257554
Molecular consequence:
  • NM_001126131.2:c.2021G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002693.3:c.2021G>A - 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:
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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000898899Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicagocriteria provided, single submitter
Uncertain significance
(Oct 13, 2017)
germlineclinical testing

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

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 Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV000898899.1

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

Description

POLG NM_002693.2 exon 11 p.Gly674Asp (c.2021G>A): This variant has not been reported in the literature but is present in 0.1% (55/30782) of South Asian individuals in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs200257554). This variant is present in ClinVar (Variation ID:206462). This variant Aspartic Acid (Asp) is present in >5 species (including mammals) and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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

Last Updated: Dec 4, 2021

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