Standard

Mitochondrial DNA copy number

POLG2 · rs17850455

What the study found

Who was studied 395,718 British, Irish, Other White, South Asian, African ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.091 higher (95% confidence interval 0.071-0.111); p = 2 × 10−18.

How common The G allele had a frequency of about 0% in the people studied.

Where it sits Chromosome 17, band 17q23.3 — a missense change in POLG2.

What ClinVar records

Classification Benign/Likely benign for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, Hereditary spastic paraplegia; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 10 submitters), last evaluated 2026-06-01. ClinVar record 138783 NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala)

What this is ClinVar's aggregate record for this position (as of its 2026-10-12 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

C/C No copy of the version the research linked to Mitochondrial DNA copy number. This is the starting point the study compared everyone against.
C/G One copy of the version the research linked to Mitochondrial DNA copy number. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Mitochondrial DNA copy number. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs17850455

What is rs17850455?

rs17850455 is a single position in the genome, in or near the POLG2 gene. Published research associates it with mitochondrial dna copy number. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs17850455 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs17850455 come from?

GWAS Catalog, eLife 2022, PMID:35023831. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Mitochondrial DNA copy number (rs17850455). MyGeneLog™. https://www.mygenelog.com/variants/rs17850455

← See all variants