7-55019298-C-T
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 2P and 13B. PM2BP4_StrongBP6_Very_StrongBP7
The NM_005228.5(EGFR):c.21C>T(p.Ala7=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000595 in 1,511,580 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. A7A) has been classified as Likely benign.
Frequency
Consequence
NM_005228.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EGFR | NM_005228.5 | c.21C>T | p.Ala7= | synonymous_variant | 1/28 | ENST00000275493.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EGFR | ENST00000275493.7 | c.21C>T | p.Ala7= | synonymous_variant | 1/28 | 1 | NM_005228.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151156Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000305 AC: 5AN: 163732Hom.: 0 AF XY: 0.0000435 AC XY: 4AN XY: 92040
GnomAD4 exome AF: 0.00000441 AC: 6AN: 1360424Hom.: 0 Cov.: 30 AF XY: 0.00000593 AC XY: 4AN XY: 674944
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151156Hom.: 0 Cov.: 33 AF XY: 0.0000271 AC XY: 2AN XY: 73792
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jun 01, 2024 | EGFR: BP4, BP7 - |
EGFR-related lung cancer Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jun 16, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at