FLT1 p.Thr1186=
c.3558T>C · rs377442842 · VCV716378
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0334%, 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 -0.57 | GERP -5 |
| Overall | ||
| CADD | 3.968 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0334%
African / African-American · 25/74,920 alleles
Filtering AF
0.0231%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0198%
Overall
0.0026%
42/1,613,678 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0334% | 2,997 |
| Admixed American | 0.0217% | 4,616 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,616 |
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
- FLT1
- Protein
- p.Thr1186=
- Coding
- c.3558T>C
- MANE Select
- NM_002019
- dbSNP
- rs377442842
- Type
- single nucleotide variant
- Location
- chr13:28311667 (GRCh38)
- Gene constraint
- LOEUF 0.379 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 72.86 · 12 PDB
Similar variants
- FLT1 p.Asp6Asn Benign ★★ same type
- FLT1 p.Cys107= Likely benign ★★ same type
- FLT1 p.Ile548Met Likely benign ★★ ⚠ same type
- FLT1 p.Leu492= Benign ★★ same type
- FLT1 p.Met938Val Likely benign ★★ same type
- FLT1 p.Pro1068= Benign ★★ same type
- FLT1 p.Pro1201Leu Likely benign ★★ same type
- FLT1 p.Thr260= 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/flt1-p-thr1186 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown