CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.254G>A
Protein name	NP_000483.3:p.(Gly85Glu)
Genomic name (hg19)	chr7:g.117149177G>A UCSC gnomAD
#Exon/intron	exon 3
Legacy Name	G85E
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	disease-causing
Subclass	CF-causing
WT sequence	TTTTTCTGGAGATTTATGTTCTATG G AATCTTTTTATATTTAGGGGTAAGG
Mutant sequence	TTTTTCTGGAGATTTATGTTCTATG A AATCTTTTTATATTTAGGGGTAAGG

CFTR-NGS Variant details:

Name

NM_000492.4:c.254G>A

Protein name

NP_000483.3:p.(Gly85Glu)

Genomic name (hg19)

chr7:g.117149177G>A UCSC gnomAD

#Exon/intron

exon 3

Legacy Name

G85E

Type in CFTR-NGS catalogue

Class in CFTR-France

disease-causing

Subclass

CF-causing

WT sequence

TTTTTCTGGAGATTTATGTTCTATG G AATCTTTTTATATTTAGGGGTAAGG

Mutant sequence

TTTTTCTGGAGATTTATGTTCTATG A AATCTTTTTATATTTAGGGGTAAGG

Additional information:
MAF (GnomAD)	5.59e-05
Splicing prediction (SpliceAI)	AG: 0.00 (18) AL: 0.00 (-14) DG: 0.00 (-9) DL: 0.12 (19)

Additional information:

MAF (GnomAD)

5.59e-05

Splicing prediction (SpliceAI)

AG: 0.00 (18)
AL: 0.00 (-14)
DG: 0.00 (-9)
DL: 0.12 (19)

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
C0	0.2439	0.07	0.995
VUS1	VUS1	VUS4	VUS5

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

38 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
P2B	CF	Montpellier	230414_varilh	heterozygous	PASS	3586	301

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