NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jun 24, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000193529.2

Allele description [Variation Report for NM_002693.2(POLG):c.1760C>T (p.Pro587Leu)]

NM_002693.2(POLG):c.1760C>T (p.Pro587Leu)

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.1760C>T (p.Pro587Leu)
HGVS:
  • NC_000015.10:g.89325639G>A
  • NG_008218.2:g.14157C>T
  • NM_001126131.1:c.1760C>T
  • NM_002693.2:c.1760C>T
  • NP_001119603.1:p.Pro587Leu
  • NP_002684.1:p.Pro587Leu
  • LRG_765t1:c.1760C>T
  • LRG_765:g.14157C>T
  • LRG_765p1:p.Pro587Leu
  • NC_000015.9:g.89868870G>A
  • NG_008218.1:g.14157C>T
  • P54098:p.Pro587Leu
Protein change:
P587L; PRO587LEU
Links:
UniProtKB: P54098#VAR_023671; OMIM: 174763.0011; dbSNP: rs113994096
NCBI 1000 Genomes Browser:
rs113994096
Molecular consequence:
  • NM_002693.2:c.1760C>T - 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
SCV000248555Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Uncertain significance
(Jun 24, 2014)
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 Genetic Services Laboratory, University of Chicago, SCV000248555.1

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

Last Updated: Mar 30, 2019

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