CFTR-NGS variants catalogue
Variant hg19:chr7:117267592G/T
Name | NM_000492.4:c.3485G>T | ||||
Protein name | NP_000483.3:p.(Arg1162Leu) | ||||
Genomic name (hg19) | chr7:g.117267592G>T UCSC gnomAD | ||||
#Exon/intron | exon 22 | ||||
Legacy Name | 3617G/T | ||||
Type in CFTR-NGS catalogue | - | ||||
Class in CFTR-France | disease-causing | ||||
Subclass | CFTR-RD-causing | ||||
Patients reported in CFTR-NGS, carrying this variant also carry: WT sequence |
TTATTTCAGATGCGATCTGTGAGCC G AGTCTTTAAGTTCATTGACATGCCA |
Mutant sequence |
TTATTTCAGATGCGATCTGTGAGCC T AGTCTTTAAGTTCATTGACATGCCA |
|
MAF (GnomAD) | 6.63e-04 |
Splicing prediction (SpliceAI) | AG: 0.00 (30) AL: 0.01 (-16) DG: 0.00 (30) DL: 0.11 (32) |
dbSNP no rs |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
present | not performed |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
13 individuals carrying this variant are reported in CFTR-France |
TOTAL NUMBER OF INDIVIDUALS | 2 |
---|---|
CFTR-RD | 1
|
Pending (NBS) | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
cad190200 | CFTR-RD | Montpellier | 150419_Altieri | heterozygous | PASS | 2317 | 290 |
cad190202 | Pending (NBS) | Montpellier | 150419_Altieri | heterozygous | PASS | 1920 | 180 |