owencqueen/cgbench_data huggingface dataset:
Gene: AKT3 (HGNC:393)
Evidence Code: PS2 — Strong
Modification Type: Disease-specific,Strength
Award the PS2_Strong point if Criteria 1 AND Criteria 2 are fulfilled.
Criteria 1: if the variant is present at a detectable allelic fraction in a proband with the disease but is absent from parental samples with confirmed maternity and paternity.
Criteria 2: can also be awarded if the variant is present at a detectable allele fraction in an affected tissue sample but is absent from or detected at a lower allelic fraction in another tissue (e.g. if present in 5% of brain tissue but absent from the blood or skin this point can be awarded).
Gene: AKT3 (HGNC:393)
Evidence Code: PS2 — Moderate
Modification Type: Disease-specific,Strength
Award the PS2_Moderate point if Criteria 1 is fulfilled, OR if parents are not available but Criteria 2 is fulfilled. 
 Criteria 1: if the variant is present at a detectable allelic fraction in a proband with the disease but is absent from parental samples with confirmed maternity and paternity. 
Criteria 2: can also be awarded if the variant is present at a detectable allele fraction in an affected tissue sample but is absent from or detected at a lower allelic fraction in another tissue (e.g. if present in 5% of brain tissue but absent from the blood or skin this point can be awarded).
Gene: AKT3 (HGNC:393)
Evidence Code: PS3 — Strong
Modification Type: Disease-specific
Follow recommendations set forth by the SVI in conjunction with specifications added by the Brain Malformation Group for quality metrics and minimum validation controls required. 
Animal models are considered in a different manner. Award PS4_Strong if the animal model generated with the variant of interest expressed in neural progenitors show a complementary brain phenotype.
Gene: AKT3 (HGNC:393)
Evidence Code: PS3 — Moderate
Modification Type: Strength
Follow recommendations set forth by the SVI in conjunction with specifications added by the Brain Malformation Group for quality metrics and minimum validation controls required. 
Animal models are considered in a different manner. Award PS4_Moderate if the animal model generated with the variant of interest expressed in non-neural tissues show an increased cancer burden.
Gene: AKT3 (HGNC:393)
Evidence Code: PS3 — Supporting
Modification Type: Strength
Follow recommendations set forth by the SVI in conjunction with specifications added by the Brain Malformation Group for quality metrics and minimum validation controls required.
Gene: AKT3 (HGNC:393)
Evidence Code: PS4 — Very Strong
Modification Type: Disease-specific,Strength
Points are assigned for phenotype according to (Table 2A). Phenotype criteria can only be used if the variant is absent from controls (PM2). Strength of evidence is determined by points according to (Table 2B).
PS4_VeryStrong = >16 points.
Gene: AKT3 (HGNC:393)
Evidence Code: PS4 — Strong
Modification Type: Disease-specific
Points are assigned for phenotype according to (Table 2A). Phenotype criteria can only be used if the variant is absent from controls (PM2). Strength of evidence is determined by points according to (Table 2B).
PS4 = 3.5-15.99 points.
Gene: AKT3 (HGNC:393)
Evidence Code: PS4 — Moderate
Modification Type: Strength
Points are assigned for phenotype according to (Table 2A). Phenotype criteria can only be used if the variant is absent from controls (PM2). Strength of evidence is determined by points according to (Table 2B).
PS4_Moderate = 1.5-3.49 points.
Gene: AKT3 (HGNC:393)
Evidence Code: PS4 — Supporting
Modification Type: Strength
The prevalence of the variant in affected individuals is significantly increased compared with the prevalence in controls. Points are assigned for phenotype according to (Supplementary Table 3). Strength of evidence is determined by points according to (Supplementary Table 2).
PS4_Supporting = 0.5 - 1.49 points.
Gene: AKT3 (HGNC:393)
Evidence Code: BA1 — Stand Alone
Modification Type: Disease-specific
Allele frequency (≥0.185%).
Gene: AKT3 (HGNC:393)
Evidence Code: BS1 — Strong
Modification Type: Disease-specific
Allele frequency (≥0.037%).
Gene: AKT3 (HGNC:393)
Evidence Code: BS2 — Strong
Modification Type: Disease-specific
Award BS2 if ≥3 homozygotes present in gnomAD or well phenotyped family members.
Gene: AKT3 (HGNC:393)
Evidence Code: BP2 — Supporting
Modification Type: None
No change.
Gene: AKT3 (HGNC:393)
Evidence Code: BP4 — Supporting
Modification Type: Disease-specific
Award BP4 for a synonymous, intronic positions (except canonical splice sites) or non-coding variants in the UTRs, if two out of three of the splicing prediction tools predicted no impact on splicing function.