CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.53+11991G>A
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117132192G>A UCSC gnomAD
#Exon/intron	intron 1
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	not reported
WT sequence	CATGTCCACTAAAAATAGGATGAAG G CCAAACTTAGGAAGAATATTTTGAT
Mutant sequence	CATGTCCACTAAAAATAGGATGAAG A CCAAACTTAGGAAGAATATTTTGAT

CFTR-NGS Variant details:

Name

NM_000492.4:c.53+11991G>A

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117132192G>A UCSC gnomAD

#Exon/intron

intron 1

Type in CFTR-NGS catalogue

Class in CFTR-France

not reported

WT sequence

CATGTCCACTAAAAATAGGATGAAG G CCAAACTTAGGAAGAATATTTTGAT

Mutant sequence

CATGTCCACTAAAAATAGGATGAAG A CCAAACTTAGGAAGAATATTTTGAT

Additional information:
MAF (GnomAD)	6.43e-04
Splicing prediction (SpliceAI)	AG: 0.00 (-7) AL: 0.00 (-29) DG: 0.00 (35) DL: 0.00 (-29)

Additional information:

MAF (GnomAD)

6.43e-04

Splicing prediction (SpliceAI)

AG: 0.00 (-7)
AL: 0.00 (-29)
DG: 0.00 (35)
DL: 0.00 (-29)

External sources:
Not found	Not found	dbSNP rs147621301	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

3 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:
TOTAL NUMBER OF INDIVIDUALS	3
Asymptomatic	2
CFTR-RD	1 CFTR-RD 1

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
m4793	Asymptomatic	Montpellier	230414_varilh	heterozygous	PASS	6881	515
m5062	Asymptomatic	Montpellier	230414_varilh	heterozygous	PASS	5778	496
6175	CFTR-RD	Montpellier	40216_varilh	heterozygous	PASS	7578	517

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