CFTR-France

Variant details:
Name	NM_000492.4:c.2657+2_2657+3insA
Protein name	NP_000483.3:p.(=)
Genomic name (hg19)	chr7:g.117242919_117242920insA UCSC
#Exon/intron	intron 16
Legacy Name	2789+2insA
Class	disease-causing
Subclass	CFTR-RD-causing
WT sequence	GTTGTGCTGTGGCTCCTTGGAAAGT - GAGTATTCCATGTCCTATTGTGTAG
Mutant sequence	GTTGTGCTGTGGCTCCTTGGAAAGT A GAGTATTCCATGTCCTATTGTGTAG

Other databases:
		dbSNP rs397508414

Pathogenicity predictors:
Not found

No patient found in CFTR-NGS catalogue

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

TOTAL NUMBER OF PATIENTS	6
Asymptomatic compound heterozygote	1
CFTR-RD	3 CBAVD 2 Other 1
Pending (NBS)	2

Color code: non disease-causing < likely benign < VUS < likely pathogenic < disease-causing

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
Pending (NBS)	5351	heterozygote	CF-causing - Trans
Pending (NBS)	5350	heterozygote	CF-causing- Undef
CBAVD	2564	heterozygote	CF-causing- Undef
CBAVD	2664	heterozygote	CF-causing- Undef
Other	4627	heterozygote	CFTR-RD-causing - Trans
Asymptomatic compound heterozygote	4628	heterozygote	VUS3 - Trans

Color code: non disease-causing < likely benign < VUS < likely pathogenic < 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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