CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.1609G>A
Protein name	NP_000483.3:p.(Asp537Asn)
Genomic name (hg19)	chr7:g.117227817G>A UCSC gnomAD
#Exon/intron	exon 12
Legacy Name	D537N
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	disease-causing
WT sequence	GGACATCTCCAAGTTTGCAGAGAAA G ACAATATAGTTCTTGGAGAAGGTGG
Mutant sequence	GGACATCTCCAAGTTTGCAGAGAAA A ACAATATAGTTCTTGGAGAAGGTGG

CFTR-NGS Variant details:

Name

NM_000492.4:c.1609G>A

Protein name

NP_000483.3:p.(Asp537Asn)

Genomic name (hg19)

chr7:g.117227817G>A UCSC gnomAD

#Exon/intron

exon 12

Legacy Name

D537N

Type in CFTR-NGS catalogue

Class in CFTR-France

disease-causing

WT sequence

GGACATCTCCAAGTTTGCAGAGAAA G ACAATATAGTTCTTGGAGAAGGTGG

Mutant sequence

GGACATCTCCAAGTTTGCAGAGAAA A ACAATATAGTTCTTGGAGAAGGTGG

Additional information:
MAF (GnomAD)	-
Splicing prediction (SpliceAI)	AG: 0.00 (-31) AL: 0.00 (-24) DG: 0.00 (-32) DL: 0.00 (42)

Additional information:

MAF (GnomAD)

Splicing prediction (SpliceAI)

AG: 0.00 (-31)
AL: 0.00 (-24)
DG: 0.00 (-32)
DL: 0.00 (42)

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
		0	1
no class	no class	VUS5	VUS5

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

No patient found 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
13	Pending (NBS)	Montpellier	150517_varilh	heterozygous	PASS	3247	284

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