CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.53+11393A>G
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117131594A>G UCSC gnomAD
#Exon/intron	intron 1
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	not reported
WT sequence	TTCTAAGGGCCATGAGGAAGAGTCT A TTCCATGCCTTTCCCCTACCTTCTG
Mutant sequence	TTCTAAGGGCCATGAGGAAGAGTCT G TTCCATGCCTTTCCCCTACCTTCTG

CFTR-NGS Variant details:

Name

NM_000492.4:c.53+11393A>G

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117131594A>G UCSC gnomAD

#Exon/intron

intron 1

Type in CFTR-NGS catalogue

Class in CFTR-France

not reported

WT sequence

TTCTAAGGGCCATGAGGAAGAGTCT A TTCCATGCCTTTCCCCTACCTTCTG

Mutant sequence

TTCTAAGGGCCATGAGGAAGAGTCT G TTCCATGCCTTTCCCCTACCTTCTG

Additional information:
MAF (GnomAD)	9.08e-05
Splicing prediction (SpliceAI)	AG: 0.00 (-5) AL: 0.00 (-18) DG: 0.00 (-5) DL: 0.00 (-33)

Additional information:

MAF (GnomAD)

9.08e-05

Splicing prediction (SpliceAI)

AG: 0.00 (-5)
AL: 0.00 (-18)
DG: 0.00 (-5)
DL: 0.00 (-33)

External sources:
Not found	Not found	dbSNP rs960563758	Not found

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

Variant validation:

Sanger
(present/not present/not verified)

Minigene
(effect/no effect/not performed)

present

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
CF	2
Suspicion of CF	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	6918	675
22	CF	Montpellier	150517_varilh	heterozygous	PASS	9056	692
cad200367	Suspicion of CF	Montpellier	151220_Altieri	heterozygous	PASS	1529	309

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