PHIP p.Ser600Ter
c.1799C>G · VCV4627381
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 17 of 40 |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2, phastCons 1 |
| Overall | ||
| CADD | 41.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- PHIP
- Protein
- p.Ser600Ter
- Coding
- c.1799C>G
- MANE Select
- NM_017934
- Type
- single nucleotide variant
- Location
- chr6:79001979 (GRCh38)
- Gene constraint
- LOEUF 0.246 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 66.57 · 146 PDB
- Residue 600
- a UniProt-annotated variant site (in chujans)
Similar variants
- PHIP p.Arg160Gly Uncertain significance ★★ ⚠ same condition
- PHIP p.Arg346Gln Uncertain significance ★★ ⚠ same condition
- PHIP p.Arg691Leu Uncertain significance ★★ ⚠ same condition
- PHIP p.Arg799Ile Uncertain significance ★★ ⚠ same condition
- PHIP p.Arg837Thr Uncertain significance ★★ ⚠ same condition
- PHIP p.Asn795His Uncertain significance ★★ ⚠ same condition
- PHIP p.Gln638Glu Uncertain significance ★★ ⚠ same condition
- PHIP p.Gly412Ser Uncertain significance ★★ ⚠ 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/phip-p-ser600ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown