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"id": "acmg_cadd_phred",
"category": "ACMG & In Silico Predictors",
"title": "CADD Phred Calibration & Conservation Metrics",
"description": "Combined Annotation Dependent Depletion (CADD v1.6) scores for coding and non-coding loci.",
"columns": [
"Gene",
"Variant (GRCh38)",
"HGVSc",
"Raw In Silico Score",
"Percentile Rank",
"Threshold Interpretation",
"ACMG Evidence Code"
],
"rows": [
[
"TRIP13",
"chr5:895,302",
"c.1060G>A",
"0.882 / 28.4 Phred",
"98.5th Percentile",
"Deleterious / Damaging",
"PP3 (Strong Computational Support)"
],
[
"BUB1B",
"chr15:40,205,811",
"c.1972C>T",
"38.0 Phred",
"99.9th Percentile",
"Nonsense Truncation",
"PVS1 (Very Strong Loss-of-Function)"
],
[
"CEP57",
"chr11:96,158,214",
"c.403C>T",
"36.0 Phred",
"99.8th Percentile",
"Nonsense Stop Gain",
"PVS1 (Loss of Microtubule Domain)"
],
[
"MAD1L1",
"chr7:1,842,504",
"c.1852C>T",
"0.794 / 26.2 Phred",
"96.4th Percentile",
"Damaging Missense",
"PP3 (Computational Evidence)"
],
[
"CEP192",
"chr18:12,874,103",
"c.1504G>A",
"0.741 / 24.1 Phred",
"94.2th Percentile",
"Likely Damaging",
"PP3 (Supporting Evidence)"
],
[
"TP53",
"chr17:7,675,088",
"c.524G>A",
"0.962 / 32.0 Phred",
"99.7th Percentile",
"Structural Oncogenic Driver",
"PS1 / PS3 / PP3 (Well-Established Pathogenic)"
],
[
"WT1",
"chr11:32,417,912",
"c.1180C>T",
"0.935 / 29.6 Phred",
"99.2th Percentile",
"Zinc Finger Inactivation",
"PS1 / PM1 / PP3 (Pathogenic Hotspot)"
]
],
"tags": [
"ACMG",
"InSilico",
"Pathogenicity"
],
"row_count": 7
} |