EXOC7 p.Pro134=
c.402G>A · rs201972335 · VCV2648299
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0825%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.009 | GERP -1.1, phastCons 0.96 |
| Overall | ||
| CADD | 13.87 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0825%
Middle Eastern · 5/6,062 alleles
Filtering AF
0.0324%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.021%
Overall
0.00923%
149/1,613,986 alleles · ultra-rare
exomes 133/1,461,890 · genomes 16/152,096 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0825% | 1,212 |
| South Asian | 0.0264% | 3,794 |
| Admixed American | 0.01% | 9,997 |
| European (non-Finnish) | 0.00864% | 11,569 |
| Remaining individualsnot grpmax-eligible | 0.008% | 12,502 |
| Finnishnot grpmax-eligible | 0.00469% | 21,335 |
| East Asian | 0.00446% | 22,431 |
| African / African-American | 0.00267% | 37,490 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- EXOC7
- Protein
- p.Pro134=
- Coding
- c.402G>A
- MANE Select
- NM_001013839
- dbSNP
- rs201972335
- Type
- single nucleotide variant
- Location
- chr17:76101286 (GRCh38)
- Gene constraint
- LOEUF 0.76 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 83.41
Similar variants
- EXOC7 p.Arg555His Uncertain significance ★★ ⚠ same type
- EXOC7 p.Asp172Tyr Uncertain significance ★★ ⚠ same type
- EXOC7 p.Gln390Leu Uncertain significance ★★ ⚠ same type
- EXOC7 p.Val218Ile Uncertain significance ★★ ⚠ same type
- EXOC7 c.417+41C>G Benign/Likely benign ★★ same type
- EXOC7 c.901+656A>G Likely benign ★★ same type
- EXOC7 p.Leu494= Benign ★★ same type
- EXOC7 c.809-2A>G Pathogenic ★ same type
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/exoc7-p-pro134 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown