catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117188840AGTT/A


CFTR-NGS Variant details:
Name NM_000492.4:c.1360_1362delTTG
Protein name NP_000483.3:p.(Leu454del)
Genomic name (hg19) chr7:g.117188845_117188847del    UCSC    
#Exon/intron exon 10
Type in CFTR-NGS catalogue artefact
Class in CFTR-France not reported
WT sequence TTTCAAGATAGAAAGAGGACAGTTG TTG GCGGTTGCTGGATCCACTGGAGCAG
Mutant sequence TTTCAAGATAGAAAGAGGACAGTTG --- GCGGTTGCTGGATCCACTGGAGCAG


Additional information:
MAF (GnomAD) 2.32e-03
Splicing prediction (SpliceAI) AG: 0.01 (-27)
AL: 0.00 (-9)
DG: 0.01 (32)
DL: 0.00 (-46)




External sources:

Not found
Not found		dbSNP
rs397508194
Not found

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



No patient found in CFTR-France


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

TOTAL NUMBER OF INDIVIDUALS 11
Asymptomatic 1
CF 2
CFTR-RD2
  • CFTR-RD  2
Pending (NBS) 4
Suspicion of CF 2



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
T2AsymptomaticMontpellier160218_varilhheterozygous LowVariantFreq 555 362
9886CFMontpellier160218_varilhheterozygous LowVariantFreq 1264 462
21CFMontpellier150517_varilhheterozygous LowVariantFreq 865 488
9663CFTR-RDMontpellier160218_varilhheterozygous LowVariantFreq 1109 450
6008CFTR-RDMontpellier160218_varilhheterozygous LowVariantFreq 1006 369
6Pending (NBS)Montpellier150517_varilhheterozygous LowVariantFreq 491 298
13Pending (NBS)Montpellier150517_varilhheterozygous LowVariantFreq 883 328
11Pending (NBS)Montpellier150517_varilhheterozygous LowVariantFreq 950 404
1Pending (NBS)Montpellier150517_varilhheterozygous LowVariantFreq 1047 535
8Suspicion of CFMontpellier150517_varilhheterozygous LowVariantFreq 682 379
10Suspicion of CFMontpellier150517_varilhheterozygous LowVariantFreq 1009 532





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