CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.1517T>C
Protein name	NP_000483.3:p.(Ile506Thr)
Genomic name (hg19)	chr7:g.117199642T>C UCSC gnomAD
#Exon/intron	exon 11
Legacy Name	I506T
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	disease-causing
Subclass	CF-causing
WT sequence	ATGCCTGGCACCATTAAAGAAAATA T CATCTTTGGTGTTTCCTATGATGAA
Mutant sequence	ATGCCTGGCACCATTAAAGAAAATA C CATCTTTGGTGTTTCCTATGATGAA

CFTR-NGS Variant details:

Name

NM_000492.4:c.1517T>C

Protein name

NP_000483.3:p.(Ile506Thr)

Genomic name (hg19)

chr7:g.117199642T>C UCSC gnomAD

#Exon/intron

exon 11

Legacy Name

I506T

Type in CFTR-NGS catalogue

Class in CFTR-France

disease-causing

Subclass

CF-causing

WT sequence

ATGCCTGGCACCATTAAAGAAAATA T CATCTTTGGTGTTTCCTATGATGAA

Mutant sequence

ATGCCTGGCACCATTAAAGAAAATA C CATCTTTGGTGTTTCCTATGATGAA

Additional information:
MAF (GnomAD)	-
Splicing prediction (SpliceAI)	AG: 0.01 (-37) AL: 0.01 (31) DG: 0.00 (-37) DL: 0.00 (-4)

Additional information:

MAF (GnomAD)

Splicing prediction (SpliceAI)

AG: 0.01 (-37)
AL: 0.01 (31)
DG: 0.00 (-37)
DL: 0.00 (-4)

External sources:
	Not found	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
C65	0.00026	0	1
VUS5	VUS5	VUS5	VUS5

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

9 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
9877	CF	Montpellier	160218_varilh	heterozygous	PASS	4220	439

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