RELN p.Ala2937=
c.8811G>A · rs144728023 · VCV167578
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 7 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.46%, amr)
Conditions
3
epilepsy, familial temporal lobe, 1
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 0.064 | GERP -3.6, phastCons 0.047 |
| Overall | ||
| CADD | 6.077 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.46%
Admixed American · 1,476/60,008 alleles
Filtering AF
2.36%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.31%
Overall
0.0993%
1,602/1,614,080 alleles · low-frequency
exomes 1,260/1,461,858 · genomes 342/152,222 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 2.46% | 41 |
| Remaining individualsnot grpmax-eligible | 0.0464% | 2,156 |
| African / African-American | 0.028% | 3,573 |
| South Asian | 0.0187% | 5,358 |
| Middle Eastern | 0.0165% | 6,062 |
| European (non-Finnish) | 0.00475% | 21,071 |
| East Asian | 0.00446% | 22,435 |
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
- RELN
- Protein
- p.Ala2937=
- Coding
- c.8811G>A
- MANE Select
- NM_005045
- dbSNP
- rs144728023
- Type
- single nucleotide variant
- Location
- chr7:103498109 (GRCh38)
- Gene constraint
- LOEUF 0.276 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
Similar variants
- RELN p.Ala2937Ser Uncertain significance ★★ same residue
- RELN p.Ala2937Thr Uncertain significance ★★ ⚠ same residue
- RELN c.3912+2T>G Likely pathogenic ★★ same condition
- RELN c.7349+2T>C Likely pathogenic ★★ same condition
- RELN p.Arg1622Ter Pathogenic/Likely pathogenic ★★ same condition
- RELN c.1893-3C>T Uncertain significance ★★ same condition
- RELN c.227-3C>T Uncertain significance ★★ same condition
- RELN c.2465+5G>T 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/reln-p-ala2937 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown