Table 3. Spectrum of uncommon EGFR variants identified in a Brazilian NSCLC cohort by Next-Generation Sequencing.
| Exon/Intron | ID rs | HGVS nucleotide | HGVS protein | Variant type | Frequency | ACMG classification |
|---|---|---|---|---|---|---|
| 3 | rs754854319 | c.409A>G | M137V (p.Met137Val) | Missense | 3 | Uncertain significance |
| 7 | rs149840192 | c.866C>T | A289V (p.Ala289Val) | Missense | 1 | Likely pathogenic |
| 8 | rs886037891 | c.977G>T | C326F (p.Cys326Phe) | Missense | 1 | Likely pathogenic |
| 14 | rs144943614 | c.1639G>A | V547I (p.Val547Ile) | Missense | 1 | Uncertain significance |
| 14 | rs779076899 | c.1705G>A | G569S (p.Gly569Ser) | Missense | 1 | Uncertain significance |
| 15 | rs538888597 | c.1881-462C>T | * | Intron | 1 | Uncertain significance |
| 16 | rs369399038 | c.1903C>T | R635W (p.Arg635Trp) | Missense | 1 | Uncertain significance |
| 22 | rs376822837 | c.2611G>A | D871N (p.Asp871Asn) | Missense | 1 | Uncertain significance |
| 27 | rs35918369 | c.3494C>T | A1165V (p.Ala1165Val) | Missense | 1 | Uncertain significance |
| 28 | rs869064669 | c.*582T>G | * | 3_prime_UTR_variant | 1 | Uncertain significance |
| 28 | rs751311059 | c.*708T>C | * | 3_prime_UTR_variant | 1 | Uncertain significance |
| 28 | rs988454507 | c.*934G>A | * | 3_prime_UTR_variant | 1 | Uncertain significance |
| 28 | rs771422383 | c.*1060G>A | * | 3_prime_UTR_variant | 1 | Uncertain significance |
EGFR: epidermal growth factor receptor; NSCLC: non-small cell lung cancer; rs: reference single nucleotide polymorphism; HGVS: Human Genome Variant Society; ACMG: American College of Medical Genetics and Genomics. The asterisks indicate lack of information.