CFTR-France

Variant details:
Name	NM_000492.4:c.958T>G
Protein name	NP_000483.3:p.(Leu320Val)
Genomic name (hg19)	chr7:g.117180242T>G UCSC gnomAD
#Exon/intron	exon 8
Legacy Name	L320V
Class	VUS
Subclass	VUS1
WT sequence	CTTCTCAGGGTTCTTTGTGGTGTTT T TATCTGTGCTTCCCTATGCACTAAT
Mutant sequence	CTTCTCAGGGTTCTTTGTGGTGTTT G TATCTGTGCTTCCCTATGCACTAAT

External sources:
		dbSNP rs144476686

Pathogenicity predictions:
AGVGD	MAPP	SIFT	PPH2
C0	0.3201	0.26	0.17
VUS1	VUS1	VUS1	VUS2

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

No patient found in CFTR-NGS catalogue

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

TOTAL NUMBER OF PATIENTS	4
Asymptomatic compound heterozygote	2
CFTR-RD	2 CBAVD 1 Pancreatitis 1

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
Asymptomatic compound heterozygote	4691	heterozygote	CF-causing - Trans
Asymptomatic compound heterozygote	4840	heterozygote
Pancreatitis	1981	heterozygote	CF-causing- Undef
CBAVD	2609	heterozygote	CFTR-RD-causing- Undef

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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