NM_002693.2(POLG):c.3057G>A (p.Trp1019Ter) AND Progressive sclerosing poliodystrophy

Clinical significance:Pathogenic (Last evaluated: Nov 8, 2005)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000014465.18

Allele description [Variation Report for NM_002693.2(POLG):c.3057G>A (p.Trp1019Ter)]

NM_002693.2(POLG):c.3057G>A (p.Trp1019Ter)

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.3057G>A (p.Trp1019Ter)
HGVS:
  • NC_000015.10:g.89319275C>T
  • NG_008218.2:g.20521G>A
  • NM_002693.2:c.3057G>A
  • NP_002684.1:p.Trp1019Ter
  • LRG_765t1:c.3057G>A
  • LRG_765:g.20521G>A
  • LRG_765p1:p.Trp1019Ter
  • NC_000015.9:g.89862506C>T
Note:
ClinGen staff contributed the HGVS expression for this variant.
Protein change:
W1019*; TRP1020TER
Links:
OMIM: 174763.0017
Molecular consequence:
  • NM_002693.2:c.3057G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Progressive sclerosing poliodystrophy (MTDPS4A)
Synonyms:
Alpers Syndrome; Mitochondrial DNA depletion syndrome 4A (Alpers type); Alpers-Huttenlocher Syndrome
Identifiers:
MedGen: C0205710; Orphanet: 726; OMIM: 203700

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000034716OMIMno assertion criteria providedPathogenic
(Nov 8, 2005)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

POLG mutations in Alpers syndrome.

Nguyen KV, Ƙstergaard E, Ravn SH, Balslev T, Danielsen ER, Vardag A, McKiernan PJ, Gray G, Naviaux RK.

Neurology. 2005 Nov 8;65(9):1493-5. Epub 2005 Sep 21.

PubMed [citation]
PMID:
16177225

Details of each submission

From OMIM, SCV000034716.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 sisters with mitochondrial DNA depletion syndrome-4A (203700), manifest as Alpers syndrome, Nguyen et al. (2005) identified compound heterozygosity for 2 mutations in the POLG gene: a 3339G-A transition in exon 19, resulting in a trp1020-to-ter (W1020X) substitution, and A467T (174763.0002).

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

Last Updated: Mar 30, 2019

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