rs1057519847
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM1PM5PP3
The NM_005228.5(EGFR):c.2572_2573delinsAA(p.Leu858Lys) variant causes a missense change involving the alteration of a conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L858R) has been classified as Likely pathogenic.
Frequency
Consequence
NM_005228.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EGFR | NM_005228.5 | c.2572_2573delinsAA | p.Leu858Lys | missense_variant | 21/28 | ENST00000275493.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EGFR | ENST00000275493.7 | c.2572_2573delinsAA | p.Leu858Lys | missense_variant | 21/28 | 1 | NM_005228.5 | P1 | |
EGFR | ENST00000455089.5 | c.2437_2438delinsAA | p.Leu813Lys | missense_variant | 20/26 | 1 | |||
EGFR | ENST00000450046.2 | c.2413_2414delinsAA | p.Leu805Lys | missense_variant | 21/28 | 4 | |||
EGFR | ENST00000700145.1 | c.899+22_899+23delinsAA | intron_variant |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.