CFTR-NGS variants catalogue
Variant hg19:chr7:117227865C/T
Name | NM_000492.4:c.1657C>T | ||||
Protein name | NP_000483.3:p.(Arg553*) | ||||
Genomic name (hg19) | chr7:g.117227865C>T UCSC gnomAD | ||||
#Exon/intron | exon 12 | ||||
Legacy Name | R553X | ||||
Type in CFTR-NGS catalogue | - | ||||
Class in CFTR-France | disease-causing | ||||
Subclass | CF-causing | ||||
Patients reported in CFTR-NGS, carrying this variant also carry: WT sequence |
TGGAATCACACTGAGTGGAGGTCAA C GAGCAAGAATTTCTTTAGCAAGGTG |
Mutant sequence |
TGGAATCACACTGAGTGGAGGTCAA T GAGCAAGAATTTCTTTAGCAAGGTG |
|
MAF (GnomAD) | 1.26e-04 |
Splicing prediction (SpliceAI) | AG: 0.00 (22) AL: 0.00 (-5) DG: 0.00 (-6) DL: 0.21 (22) |
dbSNP no rs | Not found |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
present | not performed |
81 individuals carrying this variant are reported in CFTR-France |
TOTAL NUMBER OF INDIVIDUALS | 5 |
---|---|
Asymptomatic | 1 |
CFTR-RD | 1
|
Pending (NBS) | 2 |
Suspicion of CF | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
vd63 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 5645 | 654 |
vd64 | CFTR-RD | Montpellier | 230414_varilh | heterozygous | PASS | 3135 | 323 |
2 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 4541 | 467 |
7 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 3466 | 278 |
cad190203 | Suspicion of CF | Montpellier | 150419_Altieri | heterozygous | PASS | 1734 | 196 |