CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.2210C>T
Protein name	NP_000483.3:p.(Ser737Phe)
Genomic name (hg19)	chr7:g.117232431C>T UCSC gnomAD
#Exon/intron	exon 14
Legacy Name	S737F
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	VUS
Subclass	VUS4
WT sequence	GATGAGCCTTTAGAGAGAAGGCTGT C CTTAGTACCAGATTCTGAGCAGGGA
Mutant sequence	GATGAGCCTTTAGAGAGAAGGCTGT T CTTAGTACCAGATTCTGAGCAGGGA

CFTR-NGS Variant details:

Name

NM_000492.4:c.2210C>T

Protein name

NP_000483.3:p.(Ser737Phe)

Genomic name (hg19)

chr7:g.117232431C>T UCSC gnomAD

#Exon/intron

exon 14

Legacy Name

S737F

Type in CFTR-NGS catalogue

Class in CFTR-France

VUS

Subclass

VUS4

WT sequence

GATGAGCCTTTAGAGAGAAGGCTGT C CTTAGTACCAGATTCTGAGCAGGGA

Mutant sequence

GATGAGCCTTTAGAGAGAAGGCTGT T CTTAGTACCAGATTCTGAGCAGGGA

Additional information:
MAF (GnomAD)	1.40e-05
Splicing prediction (SpliceAI)	AG: 0.00 (6) AL: 0.00 (-12) DG: 0.00 (23) DL: 0.00 (-7)

Additional information:

MAF (GnomAD)

1.40e-05

Splicing prediction (SpliceAI)

AG: 0.00 (6)
AL: 0.00 (-12)
DG: 0.00 (23)
DL: 0.00 (-7)

External sources:
	Not found	dbSNP rs186089140

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
C25	0.00106	0.02	1
VUS2	VUS5	VUS5	VUS5

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
3190	Pending (NBS)	Montpellier	40216_varilh	heterozygous	PASS	1563	155

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