rs41420046
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_ModerateBP6_Very_StrongBP7BS1
The NM_005228.5(EGFR):c.2487G>A(p.Glu829Glu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000388 in 1,613,956 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_005228.5 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EGFR | ENST00000275493.7 | c.2487G>A | p.Glu829Glu | synonymous_variant | Exon 21 of 28 | 1 | NM_005228.5 | ENSP00000275493.2 | ||
EGFR | ENST00000455089.5 | c.2352G>A | p.Glu784Glu | synonymous_variant | Exon 20 of 26 | 1 | ENSP00000415559.1 | |||
EGFR | ENST00000450046.2 | c.2328G>A | p.Glu776Glu | synonymous_variant | Exon 21 of 28 | 4 | ENSP00000413354.2 | |||
EGFR | ENST00000700145.1 | c.834G>A | p.Glu278Glu | synonymous_variant | Exon 8 of 9 | ENSP00000514824.1 |
Frequencies
GnomAD3 genomes AF: 0.00188 AC: 286AN: 152108Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000637 AC: 160AN: 251060Hom.: 1 AF XY: 0.000560 AC XY: 76AN XY: 135682
GnomAD4 exome AF: 0.000232 AC: 339AN: 1461730Hom.: 1 Cov.: 31 AF XY: 0.000212 AC XY: 154AN XY: 727172
GnomAD4 genome AF: 0.00189 AC: 287AN: 152226Hom.: 1 Cov.: 32 AF XY: 0.00196 AC XY: 146AN XY: 74414
ClinVar
Submissions by phenotype
not specified Benign:2
- -
- -
not provided Benign:2
EGFR: BP4, BP7 -
- -
Hereditary cancer-predisposing syndrome Benign:2
- -
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
EGFR-related lung cancer Benign:1
- -
Lung cancer Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at