CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.3718-5607dupT
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117276885dup UCSC
#Exon/intron	intron 22
Type in CFTR-NGS catalogue	repeat
*Class in CFTR-France*	not reported
WT sequence	AAAACCTTTAGCTTTTTTTTTTTTT - CTTTTTGAGGTGGAGTCTCACTGTT
Mutant sequence	AAAACCTTTAGCTTTTTTTTTTTTT T CTTTTTGAGGTGGAGTCTCACTGTT

CFTR-NGS Variant details:

Name

NM_000492.4:c.3718-5607dupT

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117276885dup UCSC

#Exon/intron

intron 22

Type in CFTR-NGS catalogue

repeat

Class in CFTR-France

not reported

WT sequence

AAAACCTTTAGCTTTTTTTTTTTTT - CTTTTTGAGGTGGAGTCTCACTGTT

Mutant sequence

AAAACCTTTAGCTTTTTTTTTTTTT T CTTTTTGAGGTGGAGTCTCACTGTT

Additional information:
MAF (GnomAD)	7.39e-03
Splicing prediction (SpliceAI)	AG: 0.00 (23) AL: 0.00 (0) DG: 0.00 (23) DL: 0.00 (-31)

Additional information:

MAF (GnomAD)

7.39e-03

Splicing prediction (SpliceAI)

AG: 0.00 (23)
AL: 0.00 (0)
DG: 0.00 (23)
DL: 0.00 (-31)

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 verified	not performed

Variant validation:

Sanger
(present/not present/not verified)

Minigene
(effect/no effect/not performed)

not verified

not performed

No patient found in CFTR-France

3 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:
TOTAL NUMBER OF INDIVIDUALS	3
Asymptomatic	2
CFTR-RD	1 CFTR-RD 1

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
MUCO07319	Asymptomatic	Montpellier	100714_varilh	heterozygous	PASS	5880	153
m8583	Asymptomatic	Montpellier	150419_Altieri	heterozygous	PASS	186	75
5	CFTR-RD	Montpellier	150517_varilh	heterozygous	PASS	2003	344

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