rs587778250
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP3BP6
The NM_005228.5(EGFR):c.2224G>A(p.Val742Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000347 in 1,613,952 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_005228.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EGFR | ENST00000275493.7 | c.2224G>A | p.Val742Ile | missense_variant | Exon 19 of 28 | 1 | NM_005228.5 | ENSP00000275493.2 | ||
EGFR | ENST00000455089.5 | c.2089G>A | p.Val697Ile | missense_variant | Exon 18 of 26 | 1 | ENSP00000415559.1 | |||
EGFR | ENST00000450046.2 | c.2065G>A | p.Val689Ile | missense_variant | Exon 19 of 28 | 4 | ENSP00000413354.2 | |||
EGFR | ENST00000700145.1 | c.571G>A | p.Val191Ile | missense_variant | Exon 6 of 9 | ENSP00000514824.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152186Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251486Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135920
GnomAD4 exome AF: 0.0000369 AC: 54AN: 1461766Hom.: 0 Cov.: 31 AF XY: 0.0000344 AC XY: 25AN XY: 727182
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152186Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74354
ClinVar
Submissions by phenotype
Diffuse midline glioma, H3 K27-altered Uncertain:1
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EGFR-related lung cancer Benign:1
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not specified Other:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at