Updates for c.1210-34_1210-6TG[10]T[8]:
2018-09-28 variant's name changed from c.[1210-34TG[10];1210-12T[8]] to c.1210-34_1210-6TG[10]T[8]




Variant NM_000492.4:c.1210-34_1210-6TG[10]T[8]


Variant details:
Name NM_000492.4:c.1210-34_1210-6TG[10]T[8]
#Exon/intron intron 9
Legacy Name TG10T8
Class VUS

Other databases:

Not found
Not found		dbSNP
no rs








Pathogenicity predictors:

Not found
Not found




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 3
CF 2
CFTR-RD1
  • Pancreatitis  1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 1260homozygotec.1210-34_1210-6TG[10]T[8] - Trans
c.4137-89A>G - p.(=) - Trans
c.4242+1G>A - p.(=) - Trans
CF 6557homozygotec.1210-34_1210-6TG[10]T[8] - Trans
c.4242+1G>A - p.(=) - Trans
Pancreatitis 4639heterozygoteVUS3- 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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