NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Nov 23, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000188659.8

Allele description [Variation Report for NM_002693.2(POLG):c.1402A>G (p.Asn468Asp)]

NM_002693.2(POLG):c.1402A>G (p.Asn468Asp)

Gene:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp)
Other names:
p.N468D:AAT>GAT
HGVS:
  • NC_000015.10:g.89327198T>C
  • NG_008218.2:g.12598A>G
  • NM_002693.2:c.1402A>G
  • NP_002684.1:p.Asn468Asp
  • LRG_765t1:c.1402A>G
  • LRG_765:g.12598A>G
  • LRG_765p1:p.Asn468Asp
  • NC_000015.9:g.89870429T>C
  • P54098:p.Asn468Asp
Protein change:
N468D
Links:
UniProtKB: P54098#VAR_023668; dbSNP: rs145843073
NCBI 1000 Genomes Browser:
rs145843073
Molecular consequence:
  • NM_002693.2:c.1402A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000614702Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(Nov 23, 2016)
germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, Chalmers RM, Oldfors A, Rautakorpi I, Peltonen L, Majamaa K, Somer H, Suomalainen A.

Lancet. 2004 Sep 4-10;364(9437):875-82.

PubMed [citation]
PMID:
15351195

Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.

González-Vioque E, Blázquez A, Fernández-Moreira D, Bornstein B, Bautista J, Arpa J, Navarro C, Campos Y, Fernández-Moreno MA, Garesse R, Arenas J, Martín MA.

Arch Neurol. 2006 Jan;63(1):107-11.

PubMed [citation]
PMID:
16401742
See all PubMed Citations (8)

Details of each submission

From Athena Diagnostics Inc, SCV000614702.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 17, 2019

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