CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.1069G>A
Protein name	NP_000483.3:p.(Ala357Thr)
Genomic name (hg19)	chr7:g.117180353G>A UCSC gnomAD
#Exon/intron	exon 8
Legacy Name	A357T
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	VUS
Subclass	VUS2
WT sequence	GGCGGTCACTCGGCAATTTCCCTGG G CTGTACAAACATGGTATGACTCTCT
Mutant sequence	GGCGGTCACTCGGCAATTTCCCTGG A CTGTACAAACATGGTATGACTCTCT

CFTR-NGS Variant details:

Name

NM_000492.4:c.1069G>A

Protein name

NP_000483.3:p.(Ala357Thr)

Genomic name (hg19)

chr7:g.117180353G>A UCSC gnomAD

#Exon/intron

exon 8

Legacy Name

A357T

Type in CFTR-NGS catalogue

Class in CFTR-France

VUS

Subclass

VUS2

WT sequence

GGCGGTCACTCGGCAATTTCCCTGG G CTGTACAAACATGGTATGACTCTCT

Mutant sequence

GGCGGTCACTCGGCAATTTCCCTGG A CTGTACAAACATGGTATGACTCTCT

Additional information:
MAF (GnomAD)	-
Splicing prediction (SpliceAI)	AG: 0.00 (13) AL: 0.00 (0) DG: 0.03 (13) DL: 0.00 (-22)

Additional information:

MAF (GnomAD)

Splicing prediction (SpliceAI)

AG: 0.00 (13)
AL: 0.00 (0)
DG: 0.03 (13)
DL: 0.00 (-22)

External sources:
Not found	Not found	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	0.00404	0.19	0.752
VUS1	VUS5	VUS2	VUS4

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

2 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
6150	Pending (NBS)	Montpellier	40216_varilh	heterozygous	PASS	1740	242

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