CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.1666A>G
Protein name	NP_000483.3:p.(Ile556Val)
Genomic name (hg19)	chr7:g.117227874A>G UCSC gnomAD
#Exon/intron	exon 12
Legacy Name	I556V
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	disease-causing
Subclass	CFTR-RD-causing
WT sequence	ACTGAGTGGAGGTCAACGAGCAAGA A TTTCTTTAGCAAGGTGAATAACTAA
Mutant sequence	ACTGAGTGGAGGTCAACGAGCAAGA G TTTCTTTAGCAAGGTGAATAACTAA

CFTR-NGS Variant details:

Name

NM_000492.4:c.1666A>G

Protein name

NP_000483.3:p.(Ile556Val)

Genomic name (hg19)

chr7:g.117227874A>G UCSC gnomAD

#Exon/intron

exon 12

Legacy Name

I556V

Type in CFTR-NGS catalogue

Class in CFTR-France

disease-causing

Subclass

CFTR-RD-causing

WT sequence

ACTGAGTGGAGGTCAACGAGCAAGA A TTTCTTTAGCAAGGTGAATAACTAA

Mutant sequence

ACTGAGTGGAGGTCAACGAGCAAGA G TTTCTTTAGCAAGGTGAATAACTAA

Additional information:
MAF (GnomAD)	1.17e-03
Splicing prediction (SpliceAI)	AG: 0.00 (1) AL: 0.00 (10) DG: 0.00 (8) DL: 0.00 (13)

Additional information:

MAF (GnomAD)

1.17e-03

Splicing prediction (SpliceAI)

AG: 0.00 (1)
AL: 0.00 (10)
DG: 0.00 (8)
DL: 0.00 (13)

External sources:
	Not found	dbSNP rs75789129

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
C15	0.00977	0.08	0.334
VUS1	VUS5	VUS4	VUS2

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

3 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
Asymptomatic	1

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
m8583	Asymptomatic	Montpellier	150419_Altieri	heterozygous	PASS	2821	207

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