MARK2 p.Arg261=
c.783G>C · rs1590686402 · VCV758696
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000169%, nfe)
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 0.49 | GERP -2.6, phastCons 0.99 |
| Overall | ||
| CADD | 8.09 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000169%
European (non-Finnish) · 2/1,180,016 alleles
Filtering AF
2.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.1e-05%
Overall
0.000124%
2/1,614,100 alleles · very rare
exomes 2/1,461,808 · genomes 0/152,292 · 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
- MARK2
- Protein
- p.Arg261=
- Coding
- c.783G>C
- MANE Select
- NM_001039469
- dbSNP
- rs1590686402
- Type
- single nucleotide variant
- Location
- chr11:63900573 (GRCh38)
- Gene constraint
- LOEUF 0.287 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 68.21 · 5 PDB
- Residue 261
- the protein kinase domain; a UniProt-annotated variant site (in mrd76; likely pathogenic); a UniProt-annotated variant site (in mrd76; pathogenic); an α-helix
Similar variants
- MARK2 p.Arg261Gln Uncertain significance ★ ⚠ same residue
- MARK2 p.Ala432Thr Uncertain significance ★★ ⚠ same type
- MARK2 p.Arg264Ser Uncertain significance ★★ ⚠ same type
- MARK2 p.Arg482Ter Uncertain significance ★★ same type
- MARK2 c.337+8C>G Likely benign ★★ same type
- MARK2 p.Pro459= Benign ★★ same type
- MARK2 p.Pro740= Benign ★★ same type
- MARK2 p.Ser725= 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/mark2-p-arg261 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown