CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.54-2481G>A
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117141826G>A UCSC gnomAD
#Exon/intron	intron 1
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	not reported
WT sequence	CAAAAAAAAAAAAAAAAAAAAAAAA G AAACAAAAAAAAAAAAAAAACAAAA
Mutant sequence	CAAAAAAAAAAAAAAAAAAAAAAAA A AAACAAAAAAAAAAAAAAAACAAAA

CFTR-NGS Variant details:

Name

NM_000492.4:c.54-2481G>A

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117141826G>A UCSC gnomAD

#Exon/intron

intron 1

Type in CFTR-NGS catalogue

Class in CFTR-France

not reported

WT sequence

CAAAAAAAAAAAAAAAAAAAAAAAA G AAACAAAAAAAAAAAAAAAACAAAA

Mutant sequence

CAAAAAAAAAAAAAAAAAAAAAAAA A AAACAAAAAAAAAAAAAAAACAAAA

Additional information:
MAF (GnomAD)	1.26e-01
Splicing prediction (SpliceAI)	AG: 0.00 (4) AL: 0.00 (1) DG: 0.00 (-40) DL: 0.00 (21)

Additional information:

MAF (GnomAD)

1.26e-01

Splicing prediction (SpliceAI)

AG: 0.00 (4)
AL: 0.00 (1)
DG: 0.00 (-40)
DL: 0.00 (21)

External sources:
Not found	Not found	dbSNP rs199689242	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	1
Suspicion of CF	3

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
m2369	CF	Montpellier	230414_varilh	heterozygous	PASS	143	67
m1552	Suspicion of CF	Montpellier	230414_varilh	heterozygous	LowQD	35	82
P4Cr	Suspicion of CF	Montpellier	230414_varilh	heterozygous	PASS	697	86
P6Cr	Suspicion of CF	Montpellier	230414_varilh	heterozygous	PASS	547	58

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