7-55174774-AATTAAGAGAAG-AGC
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM1PM2PM4PP3
The NM_005228.5(EGFR):c.2238_2248delATTAAGAGAAGinsGC(p.Leu747_Ala750delinsPro) variant causes a disruptive inframe deletion, synonymous change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as drug response (★). Synonymous variant affecting the same amino acid position (i.e. ELREAT746EP) has been classified as Uncertain significance.
Frequency
Consequence
NM_005228.5 disruptive_inframe_deletion, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EGFR | ENST00000275493.7 | c.2238_2248delATTAAGAGAAGinsGC | p.Leu747_Ala750delinsPro | disruptive_inframe_deletion, synonymous_variant | Exon 19 of 28 | 1 | NM_005228.5 | ENSP00000275493.2 | ||
EGFR | ENST00000455089.5 | c.2103_2113delATTAAGAGAAGinsGC | p.Leu702_Ala705delinsPro | disruptive_inframe_deletion, synonymous_variant | Exon 18 of 26 | 1 | ENSP00000415559.1 | |||
EGFR | ENST00000450046.2 | c.2079_2089delATTAAGAGAAGinsGC | p.Leu694_Ala697delinsPro | disruptive_inframe_deletion, synonymous_variant | Exon 19 of 28 | 4 | ENSP00000413354.2 | |||
EGFR | ENST00000700145.1 | c.585_595delATTAAGAGAAGinsGC | p.Leu196_Ala199delinsPro | disruptive_inframe_deletion, synonymous_variant | Exon 6 of 9 | ENSP00000514824.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Tyrosine kinase inhibitor response Other:1
- Responsive
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at