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]

Variant: NM_002693.2(POLG):c.3483-164A>C

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA15842843

677628 (ClinVar)

Gene: POLG

Condition: mitochondrial disease

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 2d6d3849-84dc-4f77-8cf9-d03cd94b8245

Approved on: 2021-05-06

Published on: 2021-05-06

HGVS expressions

NM_002693.2:c.3483-164A>C

NM_002693.2(POLG):c.3483-164A>C

ENST00000268124.11:c.3483-164A>C

ENST00000530292.3:n.3183-164A>C

ENST00000635986.2:c.*553-164A>C

ENST00000636774.1:c.*2087-164A>C

ENST00000637042.1:n.72-229A>C

ENST00000637238.1:n.2391-164A>C

ENST00000637264.1:n.2555-224A>C

ENST00000666746.1:n.3060-164A>C

ENST00000672071.1:n.4521A>C

ENST00000672695.1:n.1262-164A>C

ENST00000672923.2:n.3483-164A>C

ENST00000268124.9:c.3483-164A>C

ENST00000442287.6:c.3483-164A>C

ENST00000526671.1:n.129A>C

ENST00000530292.2:n.666-164A>C

ENST00000631044.2:c.*2907-164A>C

NM_001126131.1:c.3483-164A>C

NM_001126131.2:c.3483-164A>C

NM_002693.3:c.3483-164A>C

NC_000015.10:g.89317700T>G

CM000677.2:g.89317700T>G

NC_000015.9:g.89860931T>G

CM000677.1:g.89860931T>G

NC_000015.8:g.87661935T>G

NG_008218.1:g.22096A>C

NG_011736.1:g.78738T>G

NG_008218.2:g.22096A>C

Benign

BS2 BA1

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.3483-164 A>C variant in POLG is present in population databases gnomAD at 5.9% and seen in 12 homozygotes (BA1; observed > 1% frequency and BS2). In summary, this variant is characterized as a benign variant for primary mitochondrial disease inherited in a autosomal recessive manner. ntDNA Mitochondrial ACMG-AMP Criteria for POLG applied: BA1, BS2

BS2

12 homozygotes in gnomAD

BA1

Rule >1% gnomAD 5.9% allele frequency / 12 homozygotes

Curation History

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