CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.1392+5205G>A
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117194082G>A UCSC gnomAD
#Exon/intron	intron 10
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	not reported
WT sequence	GAATACTGTCAGAGAAGTAATCGGC G GTGGAGGTAGGGGGTAAACCATAAA
Mutant sequence	GAATACTGTCAGAGAAGTAATCGGC A GTGGAGGTAGGGGGTAAACCATAAA

CFTR-NGS Variant details:

Name

NM_000492.4:c.1392+5205G>A

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117194082G>A UCSC gnomAD

#Exon/intron

intron 10

Type in CFTR-NGS catalogue

Class in CFTR-France

not reported

WT sequence

GAATACTGTCAGAGAAGTAATCGGC G GTGGAGGTAGGGGGTAAACCATAAA

Mutant sequence

GAATACTGTCAGAGAAGTAATCGGC A GTGGAGGTAGGGGGTAAACCATAAA

Additional information:
MAF (GnomAD)	1.45e-03
Splicing prediction (SpliceAI)	AG: 0.00 (2) AL: 0.00 (6) DG: 0.00 (6) DL: 0.00 (-43)

Additional information:

MAF (GnomAD)

1.45e-03

Splicing prediction (SpliceAI)

AG: 0.00 (2)
AL: 0.00 (6)
DG: 0.00 (6)
DL: 0.00 (-43)

External sources:
Not found	Not found	dbSNP rs138454021	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

4 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:
TOTAL NUMBER OF INDIVIDUALS	4
Infertility	1
Suspicion of CF	3

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
m9437	Infertility	Montpellier	150419_Altieri	heterozygous	PASS	3312	246
m9196	Suspicion of CF	Montpellier	150419_Altieri	heterozygous	PASS	2860	257
csg182477	Suspicion of CF	Montpellier	151220_Altieri	heterozygous	PASS	2436	327
csg182478	Suspicion of CF	Montpellier	151220_Altieri	heterozygous	PASS	3613	379

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