rs483352808
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM1PM2PP3
The NM_005228.5(EGFR):c.2471G>A(p.Gly824Asp) variant causes a missense, splice region 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. 14/23 in silico tools predict a damaging outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as drug response (no stars).
Frequency
Consequence
NM_005228.5 missense, splice_region
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.2471G>A | p.Gly824Asp | missense_variant, splice_region_variant | 21/28 | ENST00000275493.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EGFR | ENST00000275493.7 | c.2471G>A | p.Gly824Asp | missense_variant, splice_region_variant | 21/28 | 1 | NM_005228.5 | P1 | |
EGFR | ENST00000455089.5 | c.2336G>A | p.Gly779Asp | missense_variant, splice_region_variant | 20/26 | 1 | |||
EGFR | ENST00000450046.2 | c.2312G>A | p.Gly771Asp | missense_variant, splice_region_variant | 21/28 | 4 | |||
EGFR | ENST00000700145.1 | c.821G>A | p.Gly274Asp | missense_variant, splice_region_variant | 8/9 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Squamous cell carcinoma of the head and neck Other:1
drug response, no assertion criteria provided | literature only | Genetics, Bhagwan Mahavir Medical Research Centre | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at