Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PM1PM2_SupportingPM5PP3_StrongPP5
The NM_005228(EGFR):c.2573T>A(p.Leu858Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD Genomes project. In-silico tool predicts a pathogenic outcome for this variant. 12/20 in silico tools predict a damaging outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L858R) has been classified as Likely pathogenic.
Verdict is Pathogenic. Variant got 10 ACMG points.
GnomAD3 genomesCov.: 32
Submissions by phenotype
Non-small cell lung carcinoma
|Likely pathogenic, no assertion criteria provided||literature only||Database of Curated Mutations (DoCM)||Jul 14, 2015||- -|
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