CDKN1C p.186AP[4]
c.567_602del · rs2494385359 · VCV2811200
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
Beckwith-Wiedemann syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.22 | GERP -0.64 |
| Region caveats | ||
| Repeat context | tandem | G-rich low complexity, simple repeat · ambiguous alignment · confidence, not pathogenicity |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- CDKN1C
- Protein
- p.186AP[4]
- Coding
- c.567_602del
- MANE Select
- NM_001122630
- dbSNP
- rs2494385359
- Type
- Deletion
- Location
- chr11:2884855 (GRCh38)
- Gene constraint
- LOEUF 1.943 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 63.93
Similar variants
- CDKN1C p.Pro137fs Pathogenic ★★ same condition
- CDKN1C p.Ser73fs Pathogenic/Likely pathogenic ★★ same condition
- CDKN1C p.Val130fs Pathogenic/Likely pathogenic ★★ same condition
- CDKN1C p.Ala246_Ala252del Uncertain significance ★★ same condition
- CDKN1C p.Gly242_Ala245del Uncertain significance ★★ same condition
- CDKN1C c.787+16_787+25del Likely benign ★★ same condition
- CDKN1C p.168_169AP[5] Likely benign ★★ same condition
- CDKN1C p.186_187AP[5] Likely benign ★★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cdkn1c-p-186ap-4 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown