HAP1 p.Ala605fs
c.1812_1813dup · rs1555588155 · VCV2637041
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
ultra-rare (gnomAD MAF 6.703e-06)
Conditions
1
HAP1-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (11 of 11) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.065 | GERP -2.4, phastCons 0.004 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
dbSNP / gnomAD
Global frequency
0.00067%
via dbSNP · ultra-rare
No ancestry breakdown or filtering allele frequency is available for this variant, so BA1/BS1 cannot be assessed from this figure alone.
Variant & gene context
- Gene
- HAP1
- Protein
- p.Ala605fs
- Coding
- c.1812_1813dup
- MANE Select
- NM_177977
- dbSNP
- rs1555588155
- Type
- Duplication
- Location
- chr17:41724747 (GRCh38)
- Gene constraint
- LOEUF 1.31 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 64.28
Disease context
HAP1-related disorder
Similar variants
- HAP1 c.550-3dup Likely benign same condition
- HAP1 p.Cys601fs Uncertain significance same condition
- HAP1 p.His569fs Uncertain significance same condition
- HAP1 c.1201-4C>T Likely benign same condition
- HAP1 c.1201-7C>T Likely benign same condition
- HAP1 c.470-7C>G Likely benign same condition
- HAP1 p.Ala21= Likely benign same condition
- HAP1 p.Ala505Val Benign same condition
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/hap1-p-ala605fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown