ROR1 p.Asn620=
c.1860T>C · VCV4893079
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0329%, mid)
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 -0.79 | GERP 1.3, phastCons 0.011 |
| Overall | ||
| CADD | 3.632 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0329%
Middle Eastern · 2/6,084 alleles
Filtering AF
0.0058%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00241%
Overall
0.000496%
8/1,614,096 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0329% | 3,042 |
| African / African-American | 0.00667% | 14,987 |
| Admixed American | 0.00167% | 60,010 |
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
- ROR1
- Protein
- p.Asn620=
- Coding
- c.1860T>C
- MANE Select
- NM_005012
- Type
- single nucleotide variant
- Location
- chr1:64177901 (GRCh38)
- Gene constraint
- LOEUF 0.326 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 69.17 · 5 PDB
- Residue 620
- an α-helix; the protein kinase domain
Similar variants
- ROR1 p.Asn620Ser Uncertain significance ★★ ⚠ same residue
- ROR1 p.Ala596Ser Uncertain significance ★★ ⚠ same type
- ROR1 p.Ala833Ser Uncertain significance ★★ ⚠ same type
- ROR1 p.Ala923Gly Uncertain significance ★★ ⚠ same type
- ROR1 p.Ala923Thr Uncertain significance ★★ ⚠ same type
- ROR1 p.Ala935Val Uncertain significance ★★ ⚠ same type
- ROR1 p.Arg25His Uncertain significance ★★ ⚠ same type
- ROR1 p.Arg429Gln Uncertain significance ★★ 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/ror1-p-asn620 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown