LAMC2 p.Ser807Asn
c.2420_2421delinsAT · rs1558097292 · VCV591129
Uncertain significance
No assertion criteria
Classification
Uncertain significance
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.5 | GERP -2.3, phastCons 0.002 |
| Regional constraint | o/e 1.00 | unconstrained · MANE · 11 kb · p 0.91 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- LAMC2
- Protein
- p.Ser807Asn
- Coding
- c.2420_2421delinsAT
- MANE Select
- NM_005562
- dbSNP
- rs1558097292
- Type
- Indel
- Location
- chr1:183235694 (GRCh38)
- Gene constraint
- LOEUF 0.797 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 72.89
- Residue 807
- the 'domain ii and i' region
Similar variants
- LAMC2 p.Ser807= Likely benign ★★ same residue
- LAMC2 p.Ser807fs Pathogenic ★ same residue
- LAMC2 p.Ser807Gly Uncertain significance ★ ⚠ same residue
- LAMC2 p.Ala772Ter Pathogenic ★ same type
- LAMC2 p.Arg917fs Likely pathogenic ★ same type
- LAMC2 p.Asn574fs Likely pathogenic ★ same type
- LAMC2 p.Cys462_Asn466delinsTer Pathogenic ★ same type
- LAMC2 p.Pro808Ala Likely 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/lamc2-p-ser807asn (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown