Description
The c.1657delC likely pathogenic variant in the ENG gene has been previously published in association with HHT (reported at cDNA position 1655 due to alternate nomenclature) (McAllister et al., 1995). This variant causes a shift in reading frame starting at codon leucine 553, changing it to a cysteine, and creating a premature stop codon at position 20 of the new reading frame, denoted p.Leu553CysfsX20. This variant is expected to result in an abnormal, truncated protein product due to replacement of the last 73 amino acid residues of the protein with 19 incorrect amino acid residues. Multiple other frameshift variants in the ENG gene have been reported in the Human Gene Mutation Database in association with HHT (Stenson et al., 2014). Furthermore, the c.1657delC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | germline | yes | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |
