NM_002693.2(POLG):c.3716delC (p.Pro1239Hisfs) AND Progressive sclerosing poliodystrophy

Clinical significance:Uncertain significance (Last evaluated: Nov 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000633555.1

Allele description [Variation Report for NM_002693.2(POLG):c.3716delC (p.Pro1239Hisfs)]

NM_002693.2(POLG):c.3716delC (p.Pro1239Hisfs)

Genes:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
FANCI:FA complementation group I [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.2(POLG):c.3716delC (p.Pro1239Hisfs)
HGVS:
  • NC_000015.10:g.89316755del
  • NG_008218.2:g.23041del
  • NM_002693.2:c.3716delC
  • NP_002684.1:p.Pro1239Hisfs
  • LRG_765t1:c.3716del
  • LRG_765:g.23041del
  • LRG_765p1:p.Pro1239Hisfs
  • NC_000015.9:g.89859986del
  • NM_002693.2:c.3716del
Links:
dbSNP: rs1555452076
NCBI 1000 Genomes Browser:
rs1555452076
Molecular consequence:
  • NM_002693.2:c.3716del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000754801Invitaecriteria provided, single submitter
Uncertain significance
(Nov 27, 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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000754801.1

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

Description

This sequence change results in a premature translational stop signal in the POLG gene (p.Pro1239Hisfs*54). While this is not anticipated to result in nonsense mediated decay, it is expected to extend the POLG protein by 53 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with POLG-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the extended amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Mar 30, 2019

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