ENGASE p.Lys372=
c.1116G>A · rs188871787 · VCV2648385
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.106%, 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 2.8 | GERP 0.88, phastCons 1 |
| Overall | ||
| CADD | 11.26 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.106%
European (non-Finnish) · 1,249/1,179,896 alleles
Filtering AF
0.101%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.099%
Overall
0.0835%
1,347/1,613,908 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.106% | 945 |
| Remaining individualsnot grpmax-eligible | 0.08% | 1,250 |
| Middle Eastern | 0.033% | 3,031 |
| South Asian | 0.022% | 4,553 |
| Finnishnot grpmax-eligible | 0.0156% | 6,395 |
| African / African-American | 0.0147% | 6,822 |
| Admixed American | 0.00667% | 15,001 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,606 |
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
- ENGASE
- Protein
- p.Lys372=
- Coding
- c.1116G>A
- MANE Select
- NM_001042573
- dbSNP
- rs188871787
- Type
- single nucleotide variant
- Location
- chr17:79083097 (GRCh38)
- Gene constraint
- LOEUF 1.018 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.41
- Residue 372
- the brct domain
Similar variants
- ENGASE p.Lys372Glu Uncertain significance ★ ⚠ same residue
- ENGASE p.Arg555His Benign ★★ same type
- ENGASE c.873-1G>A Uncertain significance ★ same type
- ENGASE p.Ala107Val Uncertain significance ★ ⚠ same type
- ENGASE p.Ala217Asp Uncertain significance ★ ⚠ same type
- ENGASE p.Ala244Val Uncertain significance ★ ⚠ same type
- ENGASE p.Ala24Gly Uncertain significance ★ ⚠ same type
- ENGASE p.Ala420Val 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/engase-p-lys372 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown