7-55155917-G-T
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM2PP3_StrongPP5
The NM_005228.5(EGFR):c.977G>T(p.Cys326Phe) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars).
Frequency
Consequence
NM_005228.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Cowden syndrome 1 Pathogenic:1
- Mutation has not been reported in 1000G, NHLBI-ESP, and ExAC databases - Mutation occurs in a highly conserved amino acid residue - Predicted as damaging according to multiple computational algorithms (SIFT, PolyPhen-2, MutationTaster, MutPred, Condel, and Project HOPE) - Functional data supportive of a gain-of-function effect -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at