owencqueen/cgbench_data huggingface dataset:
Gene: SCN1A (HGNC:10585)
Evidence Code: BS2 — Original ACMG Summary
Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
Gene: SCN1A (HGNC:10585)
Evidence Code: BS2 — Strong
Modification Type: No change
Observed in a healthy adult individual.
Gene: SCN1A (HGNC:10585)
Evidence Code: BS3 — Original ACMG Summary
Well-established in vitro or in vivo functional studies show no damaging effect on protein function or splicing.
Gene: SCN1A (HGNC:10585)
Evidence Code: BS4 — Original ACMG Summary
Lack of segregation in affected members of a family.
Caveat: The presence of phenocopies for common phenotypes (i.e. cancer, epilepsy) can mimic lack of segregation among affected individuals. Also, families may have more than one pathogenic variant contributing to an autosomal dominant disorder, further confounding an apparent lack of segregation.
Gene: SCN1A (HGNC:10585)
Evidence Code: BP1 — Original ACMG Summary
Missense variant in a gene for which primarily truncating variants are known to cause disease.
Gene: SCN1A (HGNC:10585)
Evidence Code: BP2 — Original ACMG Summary
Observed in trans with a pathogenic variant for a fully penetrant dominant gene/disorder or observed in cis with a pathogenic variant in any inheritance pattern.
Gene: SCN1A (HGNC:10585)
Evidence Code: BP2 — Supporting
Modification Type: No change
Observed in trans with a pathogenic variant for a fully penetrant dominant gene/disorder or observed in cis with a pathogenic variant in any inheritance pattern.
Gene: SCN1A (HGNC:10585)
Evidence Code: BP3 — Original ACMG Summary
In frame-deletions/insertions in a repetitive region without a known function.
Gene: SCN1A (HGNC:10585)
Evidence Code: BP3 — Supporting
Modification Type: No change
In frame-deletions/insertions in a repetitive region without a known function.
Gene: SCN1A (HGNC:10585)
Evidence Code: BP4 — Original ACMG Summary
Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc)
Caveat: As many in silico algorithms use the same or very similar input for their predictions, each algorithm cannot be counted as an independent criterion. BP4 can be used only once in any evaluation of a variant.
Gene: SCN1A (HGNC:10585)
Evidence Code: BP4 — Moderate
Modification Type: General recommendation
Follow ClinGen’s recommendations (
PMID: 36413997
) using REVEL as the computational tool.
Gene: SCN1A (HGNC:10585)
Evidence Code: BP4 — Supporting
Modification Type: General recommendation
Follow ClinGen’s recommendations (
PMID: 36413997
) using REVEL as the computational tool.
Gene: SCN1A (HGNC:10585)
Evidence Code: BP5 — Original ACMG Summary
Variant found in a case with an alternate molecular basis for disease.
Gene: SCN1A (HGNC:10585)
Evidence Code: BP5 — Supporting
Modification Type: No change
Variant found in a case with an alternate molecular basis for disease.
Gene: SCN1A (HGNC:10585)
Evidence Code: BP6 — Original ACMG Summary
Reputable source recently reports variant as benign, but the evidence is not available to the laboratory to perform an independent evaluation.
Gene: SCN1A (HGNC:10585)
Evidence Code: BP7 — Original ACMG Summary
A synonymous 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.
Gene: SCN1A (HGNC:10585)
Evidence Code: BP7 — Supporting
Modification Type: No change
A synonymous 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.