PCNT p.Arg388fs
c.1164_1165del · rs2518077360 · VCV3068508
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 7 of 47 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4.7 | GERP 2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
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
- PCNT
- Protein
- p.Arg388fs
- Coding
- c.1164_1165del
- MANE Select
- NM_006031
- dbSNP
- rs2518077360
- Type
- Microsatellite
- Location
- chr21:46349139 (GRCh38)
- Gene constraint
- LOEUF 0.943 · pLI <0.01 (gnomAD)
Similar variants
- PCNT p.Arg2865fs Pathogenic ★★ same condition
- PCNT p.Leu1007fs Pathogenic ★★ same condition
- PCNT p.Ser1142fs Pathogenic/Likely pathogenic ★★ same condition
- PCNT p.Val557fs Pathogenic ★★ same condition
- PCNT p.Ala2873fs Likely pathogenic ★ same condition
- PCNT p.Arg1646fs Pathogenic ★ same condition
- PCNT p.Cys64fs Likely pathogenic ★ same condition
- PCNT p.Glu2884fs Likely pathogenic ★ 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/pcnt-p-arg388fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown