CFTR-France

Variant details:
Name	NM_000492.4:c.2758G>A
Protein name	NP_000483.3:p.(Val920Met)
Genomic name (hg19)	chr7:g.117243686G>A UCSC gnomAD
#Exon/intron	exon 17
Legacy Name	V920M
Class	VUS
Subclass	VUS4
WT sequence	TTCGTATTATGTGTTTTACATTTAC G TGGGAGTAGCCGACACTTTGCTTGC
Mutant sequence	TTCGTATTATGTGTTTTACATTTAC A TGGGAGTAGCCGACACTTTGCTTGC

External sources:
	Not found	dbSNP rs373885282

Pathogenicity predictions:
AGVGD	MAPP	SIFT	PPH2
C0	0.00453	0.02	1
VUS1	VUS5	VUS5	VUS5

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

No patient found in CFTR-NGS catalogue

8 patients carrying this variant are reported in CFTR-France:

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
CBAVD	5809	heterozygote	VUS3- Undef
CBAVD	1509	heterozygote	varying clinical consequence- Undef
CBAVD	4634	heterozygote	CF-causing- Undef
CBAVD	5787	heterozygote	CFTR-RD-causing- Undef
CF	2557	heterozygote	VUS1 - Cis CF-causing - Trans
CF	2558	heterozygote	VUS1 - Cis CF-causing - Trans
Pancreatitis	4635	heterozygote	CF-causing- Undef
Pending (NBS)	5801	heterozygote	CF-causing - Trans

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

CFTR variants are clustered into five groups:

CF-causing: when in trans with another CF-causing mutation, will result in CF.
CFTR-RD causing: when in trans with a CF-causing mutation, will result in CFTR-related disorders (CFTR-RD) such as chronic pancreatitis, bronchiectasis, CRS-NP (chronic rhinosinusitis with or without nasal polyposis) or CBAVD (congenital absence of vas deferens), according to Bombieri C et al., 2011.
Varying clinical consequence: when in trans with another CF-causing mutation, can either result in CF or in a CFTR-RD.
Non disease-causing: when in trans with a CF-causing mutation, will not cause CF, nor CFTR-RD.
VUS (Variant of unknown clinical significance): unclassified because of insufficient data.

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