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NM_002693.3(POLG):c.3644-72C>A

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Interpretation:
Conflicting interpretations of pathogenicity​

Uncertain significance(2); Likely benign(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 13, 2018
Accession:
VCV000317313.4
Variation ID:
317313
Description:
single nucleotide variant
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NM_002693.3(POLG):c.3644-72C>A

Allele ID
333243
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q26.1
Genomic location
15: 89316899 (GRCh38) GRCh38 UCSC
15: 89860130 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001113378.2:c.*440G>T MANE Select 3 prime UTR
NM_002693.3:c.3644-72C>A MANE Select
NM_001126131.2:c.3644-72C>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:89316898:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00419 (T)

Allele frequency
1000 Genomes Project 0.00419
The Genome Aggregation Database (gnomAD) 0.00312
Trans-Omics for Precision Medicine (TOPMed) 0.00283
The Genome Aggregation Database (gnomAD) 0.00299
Links
ClinGen: CA10642662
dbSNP: rs1801377
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000280138.3
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV001116316.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001116317.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FANCI - - GRCh38
GRCh37
1039 1184
POLG - - GRCh38
GRCh37
1696 1852

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Fanconi Anemia
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV000394250.2
Submitted: (Oct 18, 2016)
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia complementation group I
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV001274372.1
Submitted: (Feb 20, 2020)
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)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
POLG-Related Spectrum Disorders
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV001274373.1
Submitted: (Feb 20, 2020)
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)

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1801377...

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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 Apr 24, 2022