CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.489+616T>A
Protein name	NP_000483.3:p.(=)
Genomic name (hg19)	chr7:g.117171784T>A UCSC gnomAD
#Exon/intron	intron 4
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	not reported
WT sequence	GAGGCATCATTTAGGTGAATTCTAA T TAACATTTAGCTACCTTACAACCAC
Mutant sequence	GAGGCATCATTTAGGTGAATTCTAA A TAACATTTAGCTACCTTACAACCAC

CFTR-NGS Variant details:

Name

NM_000492.4:c.489+616T>A

Protein name

NP_000483.3:p.(=)

Genomic name (hg19)

chr7:g.117171784T>A UCSC gnomAD

#Exon/intron

intron 4

Type in CFTR-NGS catalogue

Class in CFTR-France

not reported

WT sequence

GAGGCATCATTTAGGTGAATTCTAA T TAACATTTAGCTACCTTACAACCAC

Mutant sequence

GAGGCATCATTTAGGTGAATTCTAA A TAACATTTAGCTACCTTACAACCAC

Additional information:
MAF (GnomAD)	4.52e-03
Splicing prediction (SpliceAI)	AG: 0.00 (45) AL: 0.00 (11) DG: 0.00 (33) DL: 0.00 (-12)

Additional information:

MAF (GnomAD)

4.52e-03

Splicing prediction (SpliceAI)

AG: 0.00 (45)
AL: 0.00 (11)
DG: 0.00 (33)
DL: 0.00 (-12)

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

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

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
cad190405	Suspicion of CF	Montpellier	151220_Altieri	heterozygous	PASS	1993	170
cad190461	Suspicion of CF	Montpellier	151220_Altieri	heterozygous	PASS	3535	268
cad200365	Suspicion of CF	Montpellier	151220_Altieri	heterozygous	PASS	2664	279

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