CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.1523T>G
Protein name	NP_000483.3:p.(Phe508Cys)
Genomic name (hg19)	chr7:g.117199648T>G UCSC gnomAD
#Exon/intron	exon 11
Legacy Name	F508C
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	disease-causing
Subclass	CFTR-RD-causing
WT sequence	GGCACCATTAAAGAAAATATCATCT T TGGTGTTTCCTATGATGAATATAGA
Mutant sequence	GGCACCATTAAAGAAAATATCATCT G TGGTGTTTCCTATGATGAATATAGA

CFTR-NGS Variant details:

Name

NM_000492.4:c.1523T>G

Protein name

NP_000483.3:p.(Phe508Cys)

Genomic name (hg19)

chr7:g.117199648T>G UCSC gnomAD

#Exon/intron

exon 11

Legacy Name

F508C

Type in CFTR-NGS catalogue

Class in CFTR-France

disease-causing

Subclass

CFTR-RD-causing

WT sequence

GGCACCATTAAAGAAAATATCATCT T TGGTGTTTCCTATGATGAATATAGA

Mutant sequence

GGCACCATTAAAGAAAATATCATCT G TGGTGTTTCCTATGATGAATATAGA

Additional information:
MAF (GnomAD)	8.79e-04
Splicing prediction (SpliceAI)	AG: 0.03 (-43) AL: 0.01 (25) DG: 0.00 (-44) DL: 0.00 (-43)

Additional information:

MAF (GnomAD)

8.79e-04

Splicing prediction (SpliceAI)

AG: 0.03 (-43)
AL: 0.01 (25)
DG: 0.00 (-44)
DL: 0.00 (-43)

External sources:
		dbSNP no rs

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

Variant validation:

Sanger
(present/not present/not verified)

Minigene
(effect/no effect/not performed)

present

not performed

Pathogenicity predictions:
AGVGD	MAPP	SIFT	PPH2
C55	0.01304	0.01	1
VUS5	VUS4	VUS5	VUS5

Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing

44 individuals carrying this variant are reported in CFTR-France

1 individual (out of 136) carrying this variant is reported in CFTR-NGS catalogue:
TOTAL NUMBER OF INDIVIDUALS	1
CF	1

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
m2369	CF	Montpellier	230414_varilh	heterozygous	PASS	5903	497

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