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NM_002693.3(POLG):c.2481-10A>C

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Sep 27, 2021)
Last evaluated:
Oct 30, 2020
Accession:
VCV000317326.6
Variation ID:
317326
Description:
single nucleotide variant
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NM_002693.3(POLG):c.2481-10A>C

Allele ID
341447
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q26.1
Genomic location
15: 89321863 (GRCh38) GRCh38 UCSC
15: 89865094 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.9:g.89865094T>G
LRG_765:g.17933A>C
LRG_765t1:c.2481-10A>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:89321862:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00046
The Genome Aggregation Database (gnomAD), exomes 0.00037
The Genome Aggregation Database (gnomAD) 0.00000
1000 Genomes Project 0.00060
Links
ClinGen: CA7724448
dbSNP: rs555280530
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Oct 30, 2020 RCV000468935.4
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV000395822.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 15, 2018 RCV000734135.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
POLG - - GRCh38
GRCh37
1350 1469

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
POLG-Related Spectrum Disorders
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000394275.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Oct 30, 2020)
criteria provided, single submitter
Method: clinical testing
Progressive sclerosing poliodystrophy
Allele origin: germline
Invitae
Accession: SCV000556223.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Oct 15, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000515716.5
Submitted: (Sep 27, 2021)
Evidence details
Uncertain significance
(Jul 12, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000862252.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Oct 01, 2018)
criteria provided, single submitter
Method: clinical testing
Progressive sclerosing poliodystrophy
Allele origin: germline
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine
Accession: SCV000887041.1
Submitted: (Nov 16, 2018)
Evidence details
Comment:
The NM_002693.2:c.2481-10A>C (NP_002684.1:p.=) [GRCH38: NC_000015.10:g.89321863T>G] variant in POLG gene is interpretated to be a Likely Benign based on ACMG guidelines (PMID: 25741868). This variant meets … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=POLG - - - -

Text-mined citations for rs555280530...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Dec 04, 2021