CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.54-2647G>T
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117141660G>T UCSC gnomAD
#Exon/intron	intron 1
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	not reported
WT sequence	ACTAAAAATATAAAAAAATAGCCGG G CATGGTGGTGCATGCCTGTAATCCC
Mutant sequence	ACTAAAAATATAAAAAAATAGCCGG T CATGGTGGTGCATGCCTGTAATCCC

CFTR-NGS Variant details:

Name

NM_000492.4:c.54-2647G>T

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117141660G>T UCSC gnomAD

#Exon/intron

intron 1

Type in CFTR-NGS catalogue

Class in CFTR-France

not reported

WT sequence

ACTAAAAATATAAAAAAATAGCCGG G CATGGTGGTGCATGCCTGTAATCCC

Mutant sequence

ACTAAAAATATAAAAAAATAGCCGG T CATGGTGGTGCATGCCTGTAATCCC

Additional information:
MAF (GnomAD)	2.52e-03
Splicing prediction (SpliceAI)	AG: 0.00 (28) AL: 0.00 (-7) DG: 0.00 (-2) DL: 0.00 (-14)

Additional information:

MAF (GnomAD)

2.52e-03

Splicing prediction (SpliceAI)

AG: 0.00 (28)
AL: 0.00 (-7)
DG: 0.00 (-2)
DL: 0.00 (-14)

External sources:
Not found	Not found	dbSNP rs557442179	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
CF	1
Suspicion of CF	2

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
m1558	CF	Montpellier	230414_varilh	heterozygous	PASS	3107	326
50070	Suspicion of CF	Montpellier	40216_varilh	heterozygous	PASS	232	26
m4857	Suspicion of CF	Montpellier	151220_Altieri	heterozygous	PASS	388	38

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