catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117122235A/C


CFTR-NGS Variant details:
Name NM_000492.4:c.53+2034A>C
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117122235A>C    UCSC    gnomAD
#Exon/intron intron 1
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TAATTTATGAAAAATTGTGTTTCAC A TGGCCTTACCAGATATACAGGAAAC
Mutant sequence TAATTTATGAAAAATTGTGTTTCAC C TGGCCTTACCAGATATACAGGAAAC


Additional information:
MAF (GnomAD) 1.11e-02
Splicing prediction (SpliceAI) AG: 0.00 (13)
AL: 0.00 (2)
DG: 0.00 (43)
DL: 0.00 (-37)




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


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

TOTAL NUMBER OF INDIVIDUALS 12
Asymptomatic 2
CF 2
CFTR-RD1
  • CFTR-RD  1
Suspicion of CF 7



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
8989AsymptomaticMontpellier40216_varilhheterozygous PASS 881 75
m9946AsymptomaticMontpellier150419_Altieriheterozygous PASS 480 54
P3CrCFMontpellier230414_varilhheterozygous PASS 5188 520
18MU01177CFCochin150419_Altieriheterozygous PASS 827 119
5004CFTR-RDMontpellier40216_varilhheterozygous PASS 1447 113
m1552Suspicion of CFMontpellier230414_varilhheterozygous PASS 7057 651
csg183384Suspicion of CFMontpellier151220_Altieriheterozygous PASS 286 23
cad190462Suspicion of CFMontpellier151220_Altieriheterozygous PASS 361 44
m10080Suspicion of CFMontpellier150419_Altieriheterozygous PASS 1017 131
8988Suspicion of CFMontpellier40216_varilhheterozygous PASS 918 107
P1CrSuspicion of CFMontpellier230414_varilhheterozygous PASS 7474 659
m4857Suspicion of CFMontpellier151220_Altieriheterozygous PASS 392 40





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