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"id": "acmg_fathmm_xf_coding_noncoding",
"category": "ACMG & In Silico Predictors",
"title": "FATHMM-XF High-Precision Coding & Non-Coding Pathogenicity",
"description": "Machine learning kernel scoring functional consequences in human disease loci.",
"columns": [
"Target Locus",
"Genomic Variant (GRCh38)",
"HGVSc Notation",
"In Silico Prediction Score",
"Percentile Decile",
"ACMG Evidence Trigger",
"Clinical Categorization"
],
"rows": [
[
"BUB1B",
"chr15:40,205,811",
"c.1972C>T (p.Arg658Ter)",
"Score = 0.995 / 38.0 Phred",
"Top 0.1% Constraint",
"PVS1 (Loss-of-Function)",
"Pathogenic (MVA1 Hallmark)"
],
[
"TRIP13",
"chr5:895,302",
"c.1060G>A (p.Gly354Ser)",
"Score = 0.882 / 28.4 Phred",
"Top 1.5% Constraint",
"PS3 / PM1 / PP3",
"Pathogenic (Mosaic Driver)"
],
[
"CEP57",
"chr11:96,158,214",
"c.403C>T (p.Arg135Ter)",
"Score = 0.988 / 36.0 Phred",
"Top 0.2% Constraint",
"PVS1 (Loss-of-Function)",
"Pathogenic (MVA2 Hallmark)"
],
[
"MAD1L1",
"chr7:1,842,504",
"c.1852C>T (p.Arg618Trp)",
"Score = 0.794 / 26.2 Phred",
"Top 3.8% Constraint",
"PM1 / PP3 (Moderate)",
"Likely Pathogenic (CIN Modifier)"
],
[
"CEP192",
"chr18:12,874,103",
"c.1504G>A (p.Ala502Thr)",
"Score = 0.741 / 24.1 Phred",
"Top 5.9% Constraint",
"PP3 (Supporting)",
"Variant of Uncertain Significance"
],
[
"TP53",
"chr17:7,675,088",
"c.524G>A (p.Arg175His)",
"Score = 0.962 / 32.0 Phred",
"Top 0.3% Constraint",
"PS1 / PS3 / PP3",
"Pathogenic (Somatic Sarcoma Hit)"
]
],
"tags": [
"ACMG",
"InSilico",
"fathmm_xf_coding_noncoding"
],
"row_count": 6,
"columns_count": 7
} |