GRIP1 p.Ser69=
c.207G>A · rs192739695 · VCV710172
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.112%, afr)
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 -20 | GERP -3.8 |
| Overall | ||
| CADD | 0.847 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.112%
African / African-American · 84/75,040 alleles
Filtering AF
0.0926%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0855%
Overall
0.0199%
321/1,613,968 alleles · rare
exomes 262/1,461,664 · genomes 59/152,304 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.112% | 893 |
| Admixed American | 0.03% | 3,334 |
| Remaining individualsnot grpmax-eligible | 0.0208% | 4,808 |
| European (non-Finnish) | 0.0169% | 5,929 |
| Middle Eastern | 0.0165% | 6,062 |
| East Asian | 0.00445% | 22,447 |
| South Asian | 0.00439% | 22,768 |
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
- GRIP1
- Protein
- p.Ser69=
- Coding
- c.207G>A
- MANE Select
- NM_001366722
- dbSNP
- rs192739695
- Type
- single nucleotide variant
- Location
- chr12:66541880 (GRCh38)
- Structure
- AlphaFold pLDDT 89.07
- Residue 69
- the galectin 1 domain
Similar variants
- GRIP1 p.Ser69Ter Likely pathogenic ★ same residue
- GRIP1 p.Ser69Leu Uncertain significance ★ ⚠ same residue
- GRIP1 p.Ser69Trp Uncertain significance ★ ⚠ same residue
- GRIP1 c.1199-1G>A Likely pathogenic ★★ same type
- GRIP1 p.Cys10Ter Pathogenic/Likely pathogenic ★★ same type
- GRIP1 c.55+3A>C Uncertain significance ★★ same type
- GRIP1 c.-172A>G Uncertain significance ★★ same type
- GRIP1 c.*99G>A Uncertain significance ★★ 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/grip1-p-ser69 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown