owencqueen/cgbench_data huggingface dataset:
Gene: APC (HGNC:583)
Evidence Code: PS1 — Strong
Modification Type: Gene-specific,Strength
The previously established variant was classified as Pathogenic according to the APC-specific modifications.


This criterion can be applied to both missense and splice variants in 
APC
. 


Missense variants:
 when the variant under assessment results in the same amino acid change as previously established Pathogenic variant(s). 


There are currently only two Likely Pathogenic missense variants: c.3077A>G p.(Asn1026Ser) and c.3084T>A p.(Ser1028Arg). Other variants leading to the same missense change at these positions meet PS1_Moderate. No missense variant has been classified as Pathogenic based on current evidence. 


Splice variants
: when the variant under assessment affects splicing at the same nucleotide as a previously established Pathogenic variant. The splice prediction must be above defined thresholds (see instructions) or similar to the previously established variant by multiple 
in silico
 predictors.
Gene: APC (HGNC:583)
Evidence Code: PS1 — Moderate
Modification Type: Gene-specific,Strength
The previously established variant was classified as Likely Pathogenic according to the APC-specific modifications.


This criterion can be applied to both missense and splice variants in 
APC
. 


Missense variants:
 when the variant under assessment results in the same amino acid change as previously established Likely Pathogenic variant(s). 


There are currently only two Likely Pathogenic missense variants: c.3077A>G p.(Asn1026Ser) and c.3084T>A p.(Ser1028Arg). Other variants leading to the same missense change at these positions meet PS1_Moderate. No missense variant has been classified as Pathogenic based on current evidence. 


Splice variants
: when the variant under assessment affects splicing at the same nucleotide as a previously established Likely Pathogenic variant. The splice prediction must be above defined thresholds (see instructions) or similar to the previously established variant by multiple 
in silico
 predictors.
Gene: APC (HGNC:583)
Evidence Code: BP1 — Supporting
Modification Type: No change
BP1 is applicable to APC with the exception of missense variants located in the first 15-amino acid repeat of the β-catenin binding domain (codon 1021-1035).