Updates for c.2506G>T:
2024-10-14 Class updated from VUS4 to non disease-causing
2024-12-09 Variant classified as non-disease-causing on the basis of epidemiological data (in particular high frequency in the general population), the number and type of diagnosis for patients reported in CFTR-France and functional data




Variant NM_000492.4:c.2506G>T


Variant details:
Name NM_000492.4:c.2506G>T
Protein name NP_000483.3:p.(Asp836Tyr)
Genomic name (hg19)     chr7:g.117234999G>T    UCSC    
Genomic name (hg38) chr7:g.117594945G>T    UCSC
#Exon/intron exon 15
Legacy Name D836Y
Class non disease-causing
WT sequence TTTTATTCAGGAGTGCTTTTTTGAT G ATATGGAGAGCATACCAGCAGTGAC
Mutant sequence TTTTATTCAGGAGTGCTTTTTTGAT T ATATGGAGAGCATACCAGCAGTGAC

Other databases:
dbSNP
rs201386642



Pathogenicity predictors:



Response to modulators:


Modulator FDA approval EMA approval in vitro / ex vivo data clinical data
IVAnononono
TEZ-IVA yesnoyesno
ELX-TEZ-IVA yesnoyesno
VNZ-TEZ-DIVA yesnoyesno

clinical and functional data presented above are provided by Vertex


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-RD2
  • CRS-NP  1
  • Pancreatitis  1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CRS-NP 3098heterozygote
Pancreatitis 5329heterozygotevarying clinical consequence- Undef
Asymptomatic compound heterozygote 5308heterozygote
Asymptomatic compound heterozygote 5309heterozygoteCF-causing - Trans


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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