CFTR-France

Variant details:
Name	NM_000492.4:c.3461A>G
Protein name	NP_000483.3:p.(Asp1154Gly)
Genomic name (hg19)	chr7:g.117254760A>G UCSC
Genomic name (hg38)	chr7:g.117614706A>G UCSC
#Exon/intron	exon 21
Legacy Name	D1154G
Class	disease-causing
Subclass	CFTR-RD-causing
WT sequence	GCTGTAAACTCCAGCATAGATGTGG A TAGCTTGGTAAGTCTTATCATCTTT
Mutant sequence	GCTGTAAACTCCAGCATAGATGTGG G TAGCTTGGTAAGTCTTATCATCTTT

Other databases:
	Not found	dbSNP rs397508569


Reference	PMID	Splicing	mRNA level	Maturation	Localization	Channel fonction (Cl-)	Bicarbonate
Vankeerberghen et al, 1998	9804160			✓		✓

« ✓ » indicates the type of analysis performed and not the results

No patient found in CFTR-NGS catalogue

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

TOTAL NUMBER OF PATIENTS	2
CFTR-RD	2 CBAVD 2

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

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
CBAVD	1351	heterozygote	CF-causing- Undef
CBAVD	1696	heterozygote	CF-causing- Undef

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

CFTR variants are clustered into five groups (click here for more details about the classification of variants):

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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