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CFTR-NGS variants catalogue
Variant hg19:chr7:117199709G/A
| Name | NM_000492.4:c.1584G>A |
| Protein name | NP_000483.3:p.(=) |
| Genomic name (hg19) | chr7:g.117199709G>A UCSC gnomAD |
| #Exon/intron | exon 11 |
| Legacy Name | E528E (1716G/A) |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | non disease-causing |
| WT sequence | TCATCAAAGCATGCCAACTAGAAGA G GTAAGAAACTATGTGAAAACTTTTT |
| Mutant sequence | TCATCAAAGCATGCCAACTAGAAGA A GTAAGAAACTATGTGAAAACTTTTT |
| MAF (GnomAD) | 1.72e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (0) AL: 0.01 (-36) DG: 0.00 (12) DL: 0.04 (0) |
 |
 | dbSNP no rs |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
58 individuals carrying this variant are reported in CFTR-France |
| TOTAL NUMBER OF INDIVIDUALS | 6 |
|---|---|
| Asymptomatic | 2 |
| CFTR-RD | 1
|
| Suspicion of CF | 3 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| MUCO07319 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 1857 | 188 |
| 8989 | Asymptomatic | Montpellier | 40216_varilh | heterozygous | PASS | 2041 | 197 |
| 16MU00179 | CFTR-RD | Cochin | 150419_Altieri | heterozygous | PASS | 1226 | 174 |
| P5Cr | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 3756 | 310 |
| cad200211 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 346 | 39 |
| cad200369 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | LowVariantFreq | 157 | 102 |
