CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.3468+913G>A
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117255680G>A UCSC gnomAD
#Exon/intron	intron 21
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	not reported
WT sequence	TAGTGTGTACAAAGACCACATTTTA G TTGTGTTATTTCTCTTGTTTTGGTT
Mutant sequence	TAGTGTGTACAAAGACCACATTTTA A TTGTGTTATTTCTCTTGTTTTGGTT

CFTR-NGS Variant details:

Name

NM_000492.4:c.3468+913G>A

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117255680G>A UCSC gnomAD

#Exon/intron

intron 21

Type in CFTR-NGS catalogue

Class in CFTR-France

not reported

WT sequence

TAGTGTGTACAAAGACCACATTTTA G TTGTGTTATTTCTCTTGTTTTGGTT

Mutant sequence

TAGTGTGTACAAAGACCACATTTTA A TTGTGTTATTTCTCTTGTTTTGGTT

Additional information:
MAF (GnomAD)	2.63e-02
Splicing prediction (SpliceAI)	AG: 0.00 (32) AL: 0.00 (1) DG: 0.00 (32) DL: 0.00 (-1)

Additional information:

MAF (GnomAD)

2.63e-02

Splicing prediction (SpliceAI)

AG: 0.00 (32)
AL: 0.00 (1)
DG: 0.00 (32)
DL: 0.00 (-1)

External sources:
Not found	Not found	dbSNP rs34020733	Not found

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

Variant validation:

Sanger
(present/not present/not verified)

Minigene
(effect/no effect/not performed)

not verified

not performed

No patient found in CFTR-France

5 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:
TOTAL NUMBER OF INDIVIDUALS	5
Asymptomatic	3
CFTR-RD	2 CFTR-RD 2

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
MUCO07621	Asymptomatic	Montpellier	100714_varilh	heterozygous	PASS	1287	135
9881	Asymptomatic	Montpellier	160218_varilh	heterozygous	PASS	2468	208
T18	Asymptomatic	Montpellier	160218_varilh	heterozygous	PASS	2064	202
9663	CFTR-RD	Montpellier	160218_varilh	heterozygous	PASS	2725	232
17MU00956	CFTR-RD	Cochin	150419_Altieri	heterozygous	PASS	3345	228

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