CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.3964-1161dupA
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117303581dup UCSC
#Exon/intron	intron 24
Type in CFTR-NGS catalogue	repeat
*Class in CFTR-France*	not reported
WT sequence	TCCAGCTAAAAAAAAAAAAAAAAAA - CAAGCCATTGGTCCTAACACAACTT
Mutant sequence	TCCAGCTAAAAAAAAAAAAAAAAAA A CAAGCCATTGGTCCTAACACAACTT

CFTR-NGS Variant details:

Name

NM_000492.4:c.3964-1161dupA

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117303581dup UCSC

#Exon/intron

intron 24

Type in CFTR-NGS catalogue

repeat

Class in CFTR-France

not reported

WT sequence

TCCAGCTAAAAAAAAAAAAAAAAAA - CAAGCCATTGGTCCTAACACAACTT

Mutant sequence

TCCAGCTAAAAAAAAAAAAAAAAAA A CAAGCCATTGGTCCTAACACAACTT

Additional information:
MAF (GnomAD)	8.63e-03
Splicing prediction (SpliceAI)	AG: 0.00 (-1) AL: 0.00 (23) DG: 0.00 (-34) DL: 0.00 (-30)

Additional information:

MAF (GnomAD)

8.63e-03

Splicing prediction (SpliceAI)

AG: 0.00 (-1)
AL: 0.00 (23)
DG: 0.00 (-34)
DL: 0.00 (-30)

External sources:
Not found	Not found	dbSNP no rs	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

4 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:
TOTAL NUMBER OF INDIVIDUALS	4
CF	3
CFTR-RD	1 CFTR-RD 1

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
21	CF	Montpellier	150517_varilh	heterozygous	PASS	1226	466
22	CF	Montpellier	150517_varilh	heterozygous	PASS	1673	422
9879	CF	Montpellier	160218_varilh	heterozygous	PASS	1028	328
6008	CFTR-RD	Montpellier	160218_varilh	heterozygous	PASS	967	317

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