catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117260128AT/A


CFTR-NGS Variant details:
Name NM_000492.4:c.3468+5372delT
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117260139del    UCSC    
#Exon/intron intron 21
Type in CFTR-NGS catalogue repeat
Class in CFTR-France not reported
WT sequence GAGTCATTTCTTCAATTTTTTTTTT T GGTCTCCTTTTAATGGTTTCTTGAT
Mutant sequence GAGTCATTTCTTCAATTTTTTTTTT - GGTCTCCTTTTAATGGTTTCTTGAT


Additional information:
MAF (GnomAD) 2.84e-05
Splicing prediction (SpliceAI) AG: 0.00 (-40)
AL: 0.00 (-43)
DG: 0.00 (12)
DL: 0.00 (-33)




External sources:

Not found

Not found
dbSNP
no rs

Not found

Variant validation:
Sanger
(present/not present/not verified)
Minigene
(effect/no effect/not performed)
not verifiednot performed



No patient found in CFTR-France


14 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 14
Asymptomatic 5
CF 4
CFTR-RD2
  • CFTR-RD  2
Suspicion of CF 3



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
MUCO07319AsymptomaticMontpellier100714_varilhhomozygous PASS 8556 473
m2761AsymptomaticMontpellier230414_varilhheterozygous PASS 2124 227
m5062AsymptomaticMontpellier230414_varilhhomozygous PASS 4417 273
m93AsymptomaticMontpellier230414_varilhheterozygous PASS 2276 213
MUCO07168AsymptomaticMontpellier100714_varilhheterozygous PASS 2640 304
m1558CFMontpellier230414_varilhheterozygous PASS 633 65
P2BCFMontpellier230414_varilhheterozygous PASS 2405 253
P1BCFMontpellier230414_varilhhomozygous PASS 3839 209
m2760CFMontpellier230414_varilhheterozygous PASS 2140 192
5914CFTR-RDMontpellier40216_varilhheterozygous PASS 4840 571
3641CFTR-RDMontpellier40216_varilhheterozygous PASS 6510 729
50070Suspicion of CFMontpellier40216_varilhheterozygous PASS 6052 678
P5CrSuspicion of CFMontpellier230414_varilhheterozygous PASS 3025 355
7648Suspicion of CFMontpellier40216_varilhheterozygous PASS 1717 260





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