CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.3080T>C
Protein name	NP_000483.3:p.(Ile1027Thr)
Genomic name (hg19)	chr7:g.117250664T>C UCSC gnomAD
#Exon/intron	exon 19
Legacy Name	I1027T
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	VUS
Subclass	VUS1
WT sequence	ACAGTGCCAGTGATAGTGGCTTTTA T TATGTTGAGAGCATATTTCCTCCAA
Mutant sequence	ACAGTGCCAGTGATAGTGGCTTTTA C TATGTTGAGAGCATATTTCCTCCAA

CFTR-NGS Variant details:

Name

NM_000492.4:c.3080T>C

Protein name

NP_000483.3:p.(Ile1027Thr)

Genomic name (hg19)

chr7:g.117250664T>C UCSC gnomAD

#Exon/intron

exon 19

Legacy Name

I1027T

Type in CFTR-NGS catalogue

Class in CFTR-France

VUS

Subclass

VUS1

WT sequence

ACAGTGCCAGTGATAGTGGCTTTTA T TATGTTGAGAGCATATTTCCTCCAA

Mutant sequence

ACAGTGCCAGTGATAGTGGCTTTTA C TATGTTGAGAGCATATTTCCTCCAA

Additional information:
MAF (GnomAD)	3.70e-04
Splicing prediction (SpliceAI)	AG: 0.04 (-21) AL: 0.00 (35) DG: 0.00 (-21) DL: 0.00 (-17)

Additional information:

MAF (GnomAD)

3.70e-04

Splicing prediction (SpliceAI)

AG: 0.04 (-21)
AL: 0.00 (35)
DG: 0.00 (-21)
DL: 0.00 (-17)

External sources:
		dbSNP rs1800112

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	0.00087	0.01	0.053
VUS2	VUS5	VUS5	VUS1

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

48 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
Suspicion of CF	1

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
50070	Suspicion of CF	Montpellier	40216_varilh	heterozygous	PASS	5057	441

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