APOB p.Ser2244=
c.6732T>C · rs375217343 · VCV1755150
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00111%, nfe)
Conditions
2
Cardiovascular phenotype
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 0.17 | GERP -3.4 |
| Overall | ||
| CADD | 3.61 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00111%
European (non-Finnish) · 13/1,176,162 alleles
Filtering AF
0.000617%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000475%
Overall
0.000809%
13/1,607,782 alleles · very rare
exomes 12/1,455,564 · genomes 1/152,218 · joint denominator
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
- APOB
- Protein
- p.Ser2244=
- Coding
- c.6732T>C
- MANE Select
- NM_000384
- dbSNP
- rs375217343
- Type
- single nucleotide variant
- Location
- chr2:21010136 (GRCh38)
- Gene constraint
- LOEUF 0.537 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Similar variants
- APOB p.Ser2244Asn Conflicting classifications of pathogenicity ★ ⚠ same residue
- APOB p.Arg2085Ter Pathogenic/Likely pathogenic ★★ same condition
- APOB p.Arg3527Gln Pathogenic/Likely pathogenic ★★ ⚠ same condition
- APOB p.Arg3527Trp Pathogenic/Likely pathogenic ★★ ⚠ same condition
- APOB p.Arg490Trp Pathogenic/Likely pathogenic ★★ same condition
- APOB c.1124+3A>G Uncertain significance ★★ same condition
- APOB c.11788+4A>G Uncertain significance ★★ same condition
- APOB c.12087+2T>C 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/apob-p-ser2244 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown