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CFTR-NGS variants catalogue
Variant hg19:chr7:117242865C/G
| Name | NM_000492.4:c.2620-15C>G |
| Protein name | NP_000483.3:p.(=) |
| Genomic name (hg19) | chr7:g.117242865C>G UCSC gnomAD |
| #Exon/intron | intron 15 |
| Legacy Name | 2752-15C/G |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | VUS |
| Subclass | VUS1 |
| WT sequence | ATGTTAGAAAAAAAATCAACTGTGT C TTGTTCCATTCCAGGTGGCTGCTTC |
| Mutant sequence | ATGTTAGAAAAAAAATCAACTGTGT G TTGTTCCATTCCAGGTGGCTGCTTC |
| MAF (GnomAD) | 2.09e-03 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-6) AL: 0.00 (15) DG: 0.00 (15) DL: 0.00 (48) |
 |  Not found | dbSNP rs139379077 |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
3 individuals carrying this variant are reported in CFTR-France |
| TOTAL NUMBER OF INDIVIDUALS | 2 |
|---|---|
| Asymptomatic | 2 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| m93 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 2928 | 269 |
| MUCO07318 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 928 | 123 |
