MGAM p.Ser1155=
c.3465C>G · rs1404099248 · VCV3234388
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -0.24 | GERP 2.9, phastCons 0.072 |
| Overall | ||
| CADD | 7.69 | PHRED · no single calibrated threshold — expert panels disagree |
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
- MGAM
- Protein
- p.Ser1155=
- Coding
- c.3465C>G
- MANE Select
- NM_001365693
- dbSNP
- rs1404099248
- Type
- single nucleotide variant
- Location
- chr7:142055708 (GRCh38)
- Gene constraint
- LOEUF 0.832 · pLI <0.01 (gnomAD)
Similar variants
- MGAM p.Glu805Gly Uncertain significance ★★ same type
- MGAM p.Pro1471Ser Uncertain significance ★★ ⚠ same type
- MGAM p.Ala1296= Likely benign ★★ same type
- MGAM p.Glu2536= Benign ★★ same type
- MGAM p.Ile2500Val Benign ★★ same type
- MGAM p.Phe2443= Benign ★★ same type
- MGAM p.Pro1424Thr Benign ★★ same type
- MGAM p.Thr1528= Benign ★★ 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/mgam-p-ser1155 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown