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Nonsyndromic cleft lip with or without cleft palate

IRF6 · rs2235371

Where this position leads

What the study found

Who was studied 858 Chinese ancestry cases, 1,248 Chinese ancestry controls; replicated in 1,663 Chinese ancestry cases, 1,874 Chinese ancestry controls.

The effect Each copy of the C allele carried 1.49 times the odds of Nonsyndromic cleft lip with or without cleft palate (95% confidence interval 1.37-1.61); p = 9 × 10⁻²².

Where it sits Chromosome 1, band 1q32.2 — a missense change in IRF6.

What ClinVar records

Classification Benign for Orofacial cleft 6, susceptibility to, Van der Woude syndrome 1, Popliteal pterygium syndrome, Van der Woude syndrome; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 6 submitters), last evaluated 2026-02-02. ClinVar record 259928 NM_006147.4(IRF6):c.820G>A (p.Val274Ile)

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 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 Two copies of the version the research linked to Nonsyndromic cleft lip with or without cleft palate. That is the strongest link of the three results. A link in a study is not a diagnosis.

C/T One copy of the version the research linked to Nonsyndromic cleft lip with or without cleft palate. That is a smaller link than two copies.

T/T No copy of the version the research linked to Nonsyndromic cleft lip with or without cleft palate. This is the starting point the study compared everyone against.

Source

Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate

Sun Y, Huang Y, Yin A, Pan Y, Wang Y, Wang C, Du Y, Wang M, Lan F, Hu Z, Wang G, Jiang M

and 17 more — show all

Ma J, Zhang X, Ma H, Ma J, Zhang W, Huang Q, Zhou Z, Ma L, Li Y, Jiang H, Xie L, Jiang Y, Shi B, Cheng J, Shen H, Wang L, Yang Y

Nature communications · 2015 · PMID 25775280

Questions about rs2235371

What is rs2235371?

rs2235371 is a single position in the genome, in or near the IRF6 gene. Published research associates it with nonsyndromic cleft lip with or without cleft palate. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2235371 linked to?

On MyGeneLog this position is linked to Cleft Lip and Palate. The research behind each link, and its sources, are set out on that condition page.

Does having rs2235371 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 rs2235371 come from?

GWAS Catalog, Nat Commun 2015, PMID:25775280. 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.

Nonsyndromic cleft lip with or without cleft palate (rs2235371). MyGeneLog™. https://www.mygenelog.com/variants/rs2235371

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