CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.601G>A
Protein name	NP_000483.3:p.(Val201Met)
Genomic name (hg19)	chr7:g.117175323G>A UCSC gnomAD
#Exon/intron	exon 6
Legacy Name	V201M
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	disease-causing
Subclass	CFTR-RD-causing
WT sequence	CCAGGGACTTGCATTGGCACATTTC G TGTGGATCGCTCCTTTGCAAGTGGC
Mutant sequence	CCAGGGACTTGCATTGGCACATTTC A TGTGGATCGCTCCTTTGCAAGTGGC

CFTR-NGS Variant details:

Name

NM_000492.4:c.601G>A

Protein name

NP_000483.3:p.(Val201Met)

Genomic name (hg19)

chr7:g.117175323G>A UCSC gnomAD

#Exon/intron

exon 6

Legacy Name

V201M

Type in CFTR-NGS catalogue

Class in CFTR-France

disease-causing

Subclass

CFTR-RD-causing

WT sequence

CCAGGGACTTGCATTGGCACATTTC G TGTGGATCGCTCCTTTGCAAGTGGC

Mutant sequence

CCAGGGACTTGCATTGGCACATTTC A TGTGGATCGCTCCTTTGCAAGTGGC

Additional information:
MAF (GnomAD)	4.54e-04
Splicing prediction (SpliceAI)	AG: 0.00 (22) AL: 0.05 (-21) DG: 0.00 (-21) DL: 0.00 (16)

Additional information:

MAF (GnomAD)

4.54e-04

Splicing prediction (SpliceAI)

AG: 0.00 (22)
AL: 0.05 (-21)
DG: 0.00 (-21)
DL: 0.00 (16)

External sources:
		dbSNP rs138338446

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	0.00112	0.02	0.945
VUS1	VUS5	VUS5	VUS5

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

46 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
CFTR-RD	1 CFTR-RD 1

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
6959	CFTR-RD	Montpellier	40216_varilh	heterozygous	PASS	2726	322

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