ARSG p.Pro370=
c.1110A>G · rs7342975 · VCV1169101
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Common
common (popmax 25.9%, afr) — 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 assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.17 | GERP -2.5, phastCons 0.27 |
| Overall | ||
| CADD | 3.049 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
25.9%
African / African-American · 19,447/74,972 alleles
Filtering AF
25.6%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 25.5%
Overall
3.2%
51,683/1,613,918 alleles · common
exomes 37,945/1,461,704 · genomes 13,738/152,214 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 25.9% | 4 |
| East Asian | 13.4% | 7 |
| Middle Eastern | 5.99% | 17 |
| Remaining individualsnot grpmax-eligible | 4.33% | 23 |
| Admixed American | 3.08% | 32 |
| South Asian | 2.47% | 41 |
| Ashkenazi Jewishnot grpmax-eligible | 2.44% | 41 |
| Finnishnot grpmax-eligible | 1.91% | 52 |
| Amishnot grpmax-eligible | 1.64% | 61 |
| European (non-Finnish) | 1.45% | 69 |
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
- ARSG
- Protein
- p.Pro370=
- Coding
- c.1110A>G
- MANE Select
- NM_001267727
- dbSNP
- rs7342975
- Type
- single nucleotide variant
- Location
- chr17:68395091 (GRCh38)
- Gene constraint
- LOEUF 0.996 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.90
Similar variants
- ARSG c.1091+1G>A Likely pathogenic ★★ same type
- ARSG c.982+2T>G Likely pathogenic ★★ same type
- ARSG p.Ala180Val Uncertain significance ★★ ⚠ same type
- ARSG p.Ala262Val Uncertain significance ★★ ⚠ same type
- ARSG p.Ala313Val Uncertain significance ★★ ⚠ same type
- ARSG p.Ala374Pro Uncertain significance ★★ ⚠ same type
- ARSG p.Ala437Val Uncertain significance ★★ ⚠ same type
- ARSG p.Ala473Val 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/arsg-p-pro370 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown