CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.2002C>T
Protein name	NP_000483.3:p.(Arg668Cys)
Genomic name (hg19)	chr7:g.117232223C>T UCSC gnomAD
#Exon/intron	exon 14
Legacy Name	R668C
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	disease-causing
Subclass	CFTR-RD-causing
WT sequence	TTCAATCCTAACTGAGACCTTACAC C GTTTCTCATTAGAAGGAGATGCTCC
Mutant sequence	TTCAATCCTAACTGAGACCTTACAC T GTTTCTCATTAGAAGGAGATGCTCC

CFTR-NGS Variant details:

Name

NM_000492.4:c.2002C>T

Protein name

NP_000483.3:p.(Arg668Cys)

Genomic name (hg19)

chr7:g.117232223C>T UCSC gnomAD

#Exon/intron

exon 14

Legacy Name

R668C

Type in CFTR-NGS catalogue

Class in CFTR-France

disease-causing

Subclass

CFTR-RD-causing

WT sequence

TTCAATCCTAACTGAGACCTTACAC C GTTTCTCATTAGAAGGAGATGCTCC

Mutant sequence

TTCAATCCTAACTGAGACCTTACAC T GTTTCTCATTAGAAGGAGATGCTCC

Additional information:
MAF (GnomAD)	6.12e-03
Splicing prediction (SpliceAI)	AG: 0.24 (13) AL: 0.22 (-40) DG: 0.00 (13) DL: 0.00 (-40)

Additional information:

MAF (GnomAD)

6.12e-03

Splicing prediction (SpliceAI)

AG: 0.24 (13)
AL: 0.22 (-40)
DG: 0.00 (13)
DL: 0.00 (-40)

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	3e-05	0	1
VUS1	VUS5	VUS5	VUS5

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

128 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
Suspicion of CF	1

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
8	Suspicion of CF	Montpellier	150517_varilh	heterozygous	PASS	4737	393

Go to