Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Common
common (popmax 28.8%, eas) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not looked up on this page · why |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.5 | GERP -0.86, phastCons 0.66 |
| Overall | ||
| CADD | 6.456 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
28.8%
East Asian · 12,495/43,412 alleles
Filtering AF
28.4%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 28.2%
Overall
9.6%
153,571/1,599,836 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 28.8% | 3 |
| African / African-American | 12.4% | 8 |
| Ashkenazi Jewishnot grpmax-eligible | 12.1% | 8 |
| Remaining individualsnot grpmax-eligible | 11.1% | 9 |
| Admixed American | 10.9% | 9 |
| Middle Eastern | 10.8% | 9 |
| Finnishnot grpmax-eligible | 10% | 10 |
| South Asian | 9.74% | 10 |
| European (non-Finnish) | 8.47% | 12 |
| Amishnot grpmax-eligible | 5.04% | 20 |
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
- RECQL
- Protein
- p.Asn577=
- Coding
- c.1731T>C
- MANE Select
- NM_024854 · reported on NM_002907
- dbSNP
- rs6500
- Type
- single nucleotide variant
- Location
- chr12:21471035 (GRCh38)
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/recql-p-asn577 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown