owencqueen/cgbench_data huggingface dataset:
Gene: SHOC2 (HGNC:15454)
Evidence Code: PS1 — Strong
Modification Type: Gene-specific
Same amino acid change as a previously established pathogenic variant in 
SHOC2
 regardless of nucleotide change.
Gene: SHOC2 (HGNC:15454)
Evidence Code: PS2 — Very Strong
Modification Type: Strength
4 Points.
Gene: SHOC2 (HGNC:15454)
Evidence Code: PS2 — Strong
Modification Type: None
2 Points.
Gene: SHOC2 (HGNC:15454)
Evidence Code: PS2 — Moderate
Modification Type: Strength
1 Point.
Gene: SHOC2 (HGNC:15454)
Evidence Code: PS4 — Strong
Modification Type: Disease-specific
≥5 points.
Gene: SHOC2 (HGNC:15454)
Evidence Code: PS4 — Moderate
Modification Type: Strength
≥3 points.
Gene: SHOC2 (HGNC:15454)
Evidence Code: PS4 — Supporting
Modification Type: Strength
≥1 points.
Gene: SHOC2 (HGNC:15454)
Evidence Code: PM2 — Supporting
Modification Type: Strength
The variant must be absent from controls (gnomAD).
Gene: SHOC2 (HGNC:15454)
Evidence Code: PM4 — Moderate
Modification Type: General recommendation
No known repetitive areas in gene. Use as described.
Gene: SHOC2 (HGNC:15454)
Evidence Code: PM5 — Strong
Modification Type: Strength
≥2 different [likely] pathogenic residues changes at the same codon observed in ≥5 probands.
Gene: SHOC2 (HGNC:15454)
Evidence Code: PM5 — Moderate
Modification Type: Disease-specific
1 [likely] pathogenic residue change at the same codon observed in ≥5 probands.
Gene: SHOC2 (HGNC:15454)
Evidence Code: PM6 — Strong
Modification Type: Strength
2 Points.
Gene: SHOC2 (HGNC:15454)
Evidence Code: PM6 — Moderate
Modification Type: None
1 Point.
Gene: SHOC2 (HGNC:15454)
Evidence Code: PM6 — Supporting
Modification Type: Strength
0.5 Points.
Gene: SHOC2 (HGNC:15454)
Evidence Code: PP1 — Strong
Modification Type: Strength
≥7 informative meioses.
Gene: SHOC2 (HGNC:15454)
Evidence Code: PP1 — Moderate
Modification Type: Strength
≥5 informative meioses.
Gene: SHOC2 (HGNC:15454)
Evidence Code: PP1 — Supporting
Modification Type: Disease-specific
≥3 informative meioses.
Gene: SHOC2 (HGNC:15454)
Evidence Code: PP3 — Supporting
Modification Type: Disease-specific
For missense variants: REVEL ≥ 0.7. For splicing impact, predicted outcome must match disease mechanism.
Gene: SHOC2 (HGNC:15454)
Evidence Code: BA1 — Stand Alone
Modification Type: Disease-specific
GnomAD filtering allele frequency ≥0.05%.
Gene: SHOC2 (HGNC:15454)
Evidence Code: BS1 — Strong
Modification Type: Disease-specific
GnomAD filtering allele frequency ≥0.025%.
Gene: SHOC2 (HGNC:15454)
Evidence Code: BS2 — Strong
Modification Type: Strength
-4 Points.
Gene: SHOC2 (HGNC:15454)
Evidence Code: BS2 — Supporting
Modification Type: Strength
-1 Point.
Gene: SHOC2 (HGNC:15454)
Evidence Code: BS4 — Strong
Modification Type: General recommendation
Requires only one informative meiosis.
Gene: SHOC2 (HGNC:15454)
Evidence Code: BP2 — Strong
Modification Type: Strength
≥ (-4) Points.
Gene: SHOC2 (HGNC:15454)
Evidence Code: BP2 — Moderate
Modification Type: Strength
≥ (-2) Points.
Gene: SHOC2 (HGNC:15454)
Evidence Code: BP2 — Supporting
Modification Type: None
≥ (-1) Point.
Gene: SHOC2 (HGNC:15454)
Evidence Code: BP4 — Supporting
Modification Type: Disease-specific
For missense variants: REVEL ≤0.3.
Gene: SHOC2 (HGNC:15454)
Evidence Code: BP5 — Strong
Modification Type: Strength
≥ (-4) Points.
Gene: SHOC2 (HGNC:15454)
Evidence Code: BP5 — Moderate
Modification Type: Strength
≥ (-2) Points.
Gene: SHOC2 (HGNC:15454)
Evidence Code: BP5 — Supporting
Modification Type: None
≥ (-1) Point.
Gene: SHOC2 (HGNC:15454)
Evidence Code: BP7 — Supporting
Modification Type: General recommendation
A synonymous (silent) variant for which splicing prediction algorithms predict no impact to the splice consensus sequence nor the creation of a new splice site AND the nucleotide is not highly conserved. This rule is also applicable for intronic positions (except canonical splice sites) or non-coding variants and should be used in conjunction with BP4.