Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Link to SEPIO compliant JSON-LD document

Variant: NM_002693.2(POLG):c.3483-41A>C

CA7724119

619494 (ClinVar)

Gene: POLG

Condition: mitochondrial disease

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: ff32d3e5-6db2-4610-8d73-14271e9c4733

HGVS expressions

NM_002693.2:c.3483-41A>C

NM_002693.2(POLG):c.3483-41A>C

ENST00000268124.11:c.3483-41A>C

ENST00000530292.3:n.3183-41A>C

ENST00000635986.2:c.*553-41A>C

ENST00000636774.1:c.*2087-41A>C

ENST00000637042.1:n.72-106A>C

ENST00000637238.1:n.2391-41A>C

ENST00000637264.1:n.2555-101A>C

ENST00000666746.1:n.3060-41A>C

ENST00000672071.1:n.4644A>C

ENST00000672695.1:n.1262-41A>C

ENST00000672923.2:n.3483-41A>C

ENST00000268124.9:c.3483-41A>C

ENST00000442287.6:c.3483-41A>C

ENST00000526671.1:n.252A>C

ENST00000530292.2:n.666-41A>C

ENST00000631044.2:c.*2907-41A>C

NM_001126131.1:c.3483-41A>C

NM_001126131.2:c.3483-41A>C

NM_002693.3:c.3483-41A>C

NC_000015.10:g.89317577T>G

CM000677.2:g.89317577T>G

NC_000015.9:g.89860808T>G

CM000677.1:g.89860808T>G

NC_000015.8:g.87661812T>G

NG_008218.1:g.22219A>C

NG_011736.1:g.78615T>G

NG_008218.2:g.22219A>C

Benign

BA1 BS2

Evidence Links 0

Expert Panel

Mitochondrial Diseases VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Mitochondrial Diseases VCEP

The c.3483-41 A>C variant in POLG is present in population databases at the following frequencies: 1000 genomes at 1.7%; gnomad at 1.4% with 246 homozygotes; ExAC 1.3% with 104 homozygotes (BA1; observed > 1% frequency and BS2). In summary, there is sufficient evidence to characterize this variant as benign for primary mitochondrial disease inherited in a autosomal recessive manner. ntDNA Mitochondrial ACMG-AMP Criteria for POLG applied: BA1, BS2

BA1

> 1% 1000 genomes 17.5% gnomad 246 homozygotes / 1.4% ExAC 104 homozygotes / 1.3%

BS2

246 homozygotes in gnomAD 104 homozygotes in ExAC

Approved on: 2021-05-06

Published on: 2021-05-06

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