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.1250+188A>G

CA14089290

667951 (ClinVar)

Gene: POLG

Condition: mitochondrial disease

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: d1258e9a-92df-4419-9bed-fffa26fd7404

HGVS expressions

NM_002693.2:c.1250+188A>G

NM_002693.2(POLG):c.1250+188A>G

NC_000015.10:g.89328268T>C

CM000677.2:g.89328268T>C

NC_000015.9:g.89871499T>C

CM000677.1:g.89871499T>C

NC_000015.8:g.87672503T>C

NG_008218.1:g.11528A>G

NG_008218.2:g.11528A>G

ENST00000268124.11:c.1250+188A>G

ENST00000530292.3:n.851+188A>G

ENST00000635986.2:c.1250+188A>G

ENST00000636774.1:c.1250+188A>G

ENST00000637264.1:n.322+188A>G

ENST00000666746.1:n.827+417A>G

ENST00000672071.1:n.1448+188A>G

ENST00000672923.2:n.435A>G

ENST00000268124.9:c.1250+188A>G

ENST00000442287.6:c.1250+188A>G

ENST00000532363.2:n.108+188A>G

ENST00000631044.2:c.*633+188A>G

NM_001126131.1:c.1250+188A>G

NM_001126131.2:c.1250+188A>G

NM_002693.3:c.1250+188A>G

Benign

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.1250+188A>G variant in POLG has been reported with an allele frequency in the population of 58% in gnomAD (BA1). In summary, this variant meets criteria to be classified as benign for primary mitochondrial disease inherited in a recessive manner. ntDNA Mitochondrial ACMG-AMP Criteria for POLG applied: BA1.

BA1

gnomAD Allele Frequency: 0.58212

Approved on: 2021-05-07

Published on: 2021-05-07

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