Variant NM_000492.4:c.178G>T


Variant details:
Name NM_000492.4:c.178G>T
Protein name NP_000483.3:p.(Glu60*)
Genomic name (hg19) chr7:g.117149101G>T    UCSC    gnomAD
#Exon/intron exon 3
Legacy Name E60X
Class disease-causing
Subclass CF-causing
WT sequence ATTCTTTTGCAGAGAATGGGATAGA G AGCTGGCTTCAAAGAAAAATCCTAA
Mutant sequence ATTCTTTTGCAGAGAATGGGATAGA T AGCTGGCTTCAAAGAAAAATCCTAA






External sources:
dbSNP
rs77284892
Not found







No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 21
CF 16
CFTR-RD4
  • CBAVD  4
Pending (NBS) 1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 229heterozygoteCF-causing- Undef
CF 3654heterozygoteCF-causing - Trans
CF 3703heterozygoteCF-causing- Undef
CF 3754heterozygoteCF-causing- Undef
CF 3801heterozygoteCF-causing- Undef
CF 3803heterozygoteCF-causing - Trans
CF 3930heterozygoteCF-causing- Undef
CF 4061heterozygoteCF-causing- Undef
CF 4196heterozygoteCF-causing- Undef
CF 3599heterozygoteCF-causing- Undef
CF 3595heterozygoteCF-causing- Undef
CF 3547heterozygoteCF-causing - Trans
CF 2235heterozygoteCF-causing- Undef
CF 4882heterozygoteCF-causing - Trans
CF 3445heterozygoteCF-causing- Undef
CF 3523heterozygoteCF-causing- Undef
CBAVD 1363heterozygotevarying clinical consequence- Undef
CBAVD 1696heterozygoteCFTR-RD-causing- Undef
CBAVD 4987heterozygoteVUS3- Undef
CBAVD 2138heterozygoteCFTR-RD-causing- Undef
Pending (NBS) 6001heterozygotevarying clinical consequence- 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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