catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117301328G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.3964-3414G>A
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117301328G>A    UCSC    gnomAD
#Exon/intron intron 24
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TCACAGTGAATAAAACAGTGAGATA G GAATATTGCAAAATGTCCCCTGTGT
Mutant sequence TCACAGTGAATAAAACAGTGAGATA A GAATATTGCAAAATGTCCCCTGTGT


Additional information:
MAF (GnomAD) 7.05e-02
Splicing prediction (SpliceAI) AG: 0.00 (-19)
AL: 0.00 (1)
DG: 0.00 (27)
DL: 0.00 (37)




External sources:

Not found
Not found		dbSNP
rs35986679
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 3
CF 2
CFTR-RD1
  • CFTR-RD  1
Pending (NBS) 2
Suspicion of CF 4



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
MUCO07168AsymptomaticMontpellier100714_varilhheterozygous PASS 640 50
m9947AsymptomaticMontpellier150419_Altieriheterozygous PASS 2744 199
T17AsymptomaticMontpellier160218_varilhheterozygous PASS 2486 171
9078CFMontpellier160218_varilhheterozygous PASS 2271 171
9777CFMontpellier160218_varilhheterozygous PASS 2532 191
16MU00510CFTR-RDCochin150419_Altieriheterozygous PASS 1705 139
1Pending (NBS)Montpellier150517_varilhheterozygous PASS 3300 250
5543Pending (NBS)Montpellier40216_varilhheterozygous PASS 2297 169
8988Suspicion of CFMontpellier40216_varilhheterozygous PASS 2137 150
7015Suspicion of CFMontpellier40216_varilhheterozygous PASS 2301 184
m8852Suspicion of CFMontpellier150419_Altieriheterozygous PASS 1921 162
P6CrSuspicion of CFMontpellier230414_varilhheterozygous PASS 1776 150





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