NM_002693.2(POLG):c.3218C>T (p.Pro1073Leu)

Variation ID: Help
13516
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_002693.2(POLG):c.3218C>T (p.Pro1073Leu)

Allele ID:
28555
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
  • Chr15: 89318986 (on Assembly GRCh38)
  • Chr15: 89862217 (on Assembly GRCh37)
Other names:
  • p.P1073L:CCG>CTG
Protein change:
P1073L
HGVS:
  • NG_008218.2:g.20810C>T
  • NM_002693.2:c.3218C>T
  • NP_002684.1:p.Pro1073Leu
  • NC_000015.10:g.89318986G>A (GRCh38)
  • NC_000015.9:g.89862217G>A (GRCh37)
  • NG_008218.1:g.20810C>T
Links:
NCBI 1000 Genomes Browser:
rs267606959
Molecular consequence:
NM_002693.2:c.3218C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
ExAC 0.00002 (A)

1 Affected gene

Variant frequency in dbGaP Help

NM_002693.2(POLG):c.3218C>T (p.Pro1073Leu)

GRCh37 Chr15:89862217
Called variantsPotential variants
Sample countno data1 of 41067

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Aug 16, 2016)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000242297.9
    Pathogenic
    (Feb 1, 2010)
    no assertion criteria providedliterature onlygermlineOMIMSCV000034721.2
    Pathogenic
    (Feb 1, 2010)
    no assertion criteria providedliterature only
    • Mitochondrial DNA depletion syndrome 4B, MNGIE type[MedGen | OMIM]
    germlineOMIMSCV000034722.2
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermlinenot providednot provided
    GeneDxnot providednot providedgermlinenot providednot providednot providedp.Pro1073Leu (CCG>CTG):c.3218 …Full description
    OMIMnot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Jul 5, 2017