CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.3140-92T>C
Protein name	NP_000483.3:p.(=)
Genomic name (hg19)	chr7:g.117251543T>C UCSC gnomAD
#Exon/intron	intron 19
Legacy Name	3272-93T/C
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	non disease-causing
WT sequence	ACCAATGACATTTGTGATATGATTA T TCTAATTTAGTCTTTTTCAGGTACA
Mutant sequence	ACCAATGACATTTGTGATATGATTA C TCTAATTTAGTCTTTTTCAGGTACA

CFTR-NGS Variant details:

Name

NM_000492.4:c.3140-92T>C

Protein name

NP_000483.3:p.(=)

Genomic name (hg19)

chr7:g.117251543T>C UCSC gnomAD

#Exon/intron

intron 19

Legacy Name

3272-93T/C

Type in CFTR-NGS catalogue

Class in CFTR-France

non disease-causing

WT sequence

ACCAATGACATTTGTGATATGATTA T TCTAATTTAGTCTTTTTCAGGTACA

Mutant sequence

ACCAATGACATTTGTGATATGATTA C TCTAATTTAGTCTTTTTCAGGTACA

Additional information:
MAF (GnomAD)	1.25e-01
Splicing prediction (SpliceAI)	AG: 0.00 (27) AL: 0.00 (11) DG: 0.00 (20) DL: 0.00 (-13)

Additional information:

MAF (GnomAD)

1.25e-01

Splicing prediction (SpliceAI)

AG: 0.00 (27)
AL: 0.00 (11)
DG: 0.00 (20)
DL: 0.00 (-13)

External sources:
	Not found	dbSNP rs4148717	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

37 individuals carrying this variant are reported in CFTR-France

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

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
MUCO07358	Asymptomatic	Montpellier	100714_varilh	heterozygous	PASS	2642	209
cad200291	Suspicion of CF	Montpellier	151220_Altieri	heterozygous	PASS	523	47
m4959	Suspicion of CF	Montpellier	151220_Altieri	heterozygous	PASS	1095	97

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