SHOC2 p.Pro565fs
c.1692dup · rs1564732148 · VCV2807258
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 7.136e-07)
Conditions
1
RASopathy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (9 of 9) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.2 | GERP -0.84, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
dbSNP / gnomAD
Global frequency
7.14e-05%
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
- SHOC2
- Protein
- p.Pro565fs
- Coding
- c.1692dup
- MANE Select
- NM_007373
- dbSNP
- rs1564732148
- Type
- Duplication
- Location
- chr10:111011755 (GRCh38)
- Gene constraint
- LOEUF 0.201 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 88.00 · 13 PDB
- Residue 565
- an α-helix
Similar variants
- SHOC2 p.Pro565= Likely benign ★★ same residue
- SHOC2 p.Pro565Thr Uncertain significance ★ ⚠ same residue
- SHOC2 c.1541-7dup Benign/Likely benign ★★ same condition
- SHOC2 c.973-5dup Benign/Likely benign ★★ same condition
- SHOC2 p.Asn495Ter Uncertain significance ★ same condition
- SHOC2 p.Lys41_Glu42insAspProLysValProSerAlaLysGluArgGluLysGluAlaLysAlaSerGlyGlyPheGlyLysGluSerLysGluLys Uncertain significance ★ same condition
- SHOC2 c.1162-18dup Likely benign ★ same condition
- SHOC2 p.Met173Ile Pathogenic ★★★ ⚠ 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/shoc2-p-pro565fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown