CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.3154T>G
Protein name	NP_000483.3:p.(Phe1052Val)
Genomic name (hg19)	chr7:g.117251649T>G UCSC gnomAD
#Exon/intron	exon 20
Legacy Name	F1052V
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	disease-causing
Subclass	CFTR-RD-causing
WT sequence	ATATTTCACAGGCAGGAGTCCAATT T TCACTCATCTTGTTACAAGCTTAAA
Mutant sequence	ATATTTCACAGGCAGGAGTCCAATT G TCACTCATCTTGTTACAAGCTTAAA

CFTR-NGS Variant details:

Name

NM_000492.4:c.3154T>G

Protein name

NP_000483.3:p.(Phe1052Val)

Genomic name (hg19)

chr7:g.117251649T>G UCSC gnomAD

#Exon/intron

exon 20

Legacy Name

F1052V

Type in CFTR-NGS catalogue

Class in CFTR-France

disease-causing

Subclass

CFTR-RD-causing

WT sequence

ATATTTCACAGGCAGGAGTCCAATT T TCACTCATCTTGTTACAAGCTTAAA

Mutant sequence

ATATTTCACAGGCAGGAGTCCAATT G TCACTCATCTTGTTACAAGCTTAAA

Additional information:
MAF (GnomAD)	3.84e-04
Splicing prediction (SpliceAI)	AG: 0.04 (-10) AL: 0.05 (20) DG: 0.00 (-1) DL: 0.00 (-14)

Additional information:

MAF (GnomAD)

3.84e-04

Splicing prediction (SpliceAI)

AG: 0.04 (-10)
AL: 0.05 (20)
DG: 0.00 (-1)
DL: 0.00 (-14)

External sources:
		dbSNP no rs

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

Pathogenicity predictions:
AGVGD	MAPP	SIFT	PPH2
C0	0.00048	0	0.999
VUS1	VUS5	VUS5	VUS5

Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing

10 individuals carrying this variant are reported in CFTR-France

1 individual (out of 136) carrying this variant is reported in CFTR-NGS catalogue:
TOTAL NUMBER OF INDIVIDUALS	1
Pending (NBS)	1

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
cad190201	Pending (NBS)	Montpellier	150419_Altieri	heterozygous	PASS	1876	246

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