CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.3718-5408G>T
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117277084G>T UCSC gnomAD
#Exon/intron	intron 22
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	not reported
WT sequence	TGGGGTTTTATCATGTTGGCCAGGC G GGTCTTGAACTCCTAACCTCAAGTG
Mutant sequence	TGGGGTTTTATCATGTTGGCCAGGC T GGTCTTGAACTCCTAACCTCAAGTG

CFTR-NGS Variant details:

Name

NM_000492.4:c.3718-5408G>T

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117277084G>T UCSC gnomAD

#Exon/intron

intron 22

Type in CFTR-NGS catalogue

Class in CFTR-France

not reported

WT sequence

TGGGGTTTTATCATGTTGGCCAGGC G GGTCTTGAACTCCTAACCTCAAGTG

Mutant sequence

TGGGGTTTTATCATGTTGGCCAGGC T GGTCTTGAACTCCTAACCTCAAGTG

Additional information:
MAF (GnomAD)	-
Splicing prediction (SpliceAI)	AG: 0.00 (11) AL: 0.00 (-28) DG: 0.00 (1) DL: 0.00 (-3)

Additional information:

MAF (GnomAD)

Splicing prediction (SpliceAI)

AG: 0.00 (11)
AL: 0.00 (-28)
DG: 0.00 (1)
DL: 0.00 (-3)

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
CF	1

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
m4793	Asymptomatic	Montpellier	230414_varilh	heterozygous	PASS	241	149
m5062	Asymptomatic	Montpellier	230414_varilh	heterozygous	LowQD	57	211
m2369	CF	Montpellier	230414_varilh	heterozygous	LowQD	43	376

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