Variant NM_000492.4:c.2128A>T


Variant details:
Name NM_000492.4:c.2128A>T
Protein name NP_000483.3:p.(Lys710*)
Genomic name (hg19) chr7:g.117232349A>T    UCSC    gnomAD
#Exon/intron exon 14
Legacy Name K710X
Class disease-causing
Subclass CF-causing
WT sequence TCTCAATCCAATCAACTCTATACGA A AATTTTCCATTGTGCAAAAGACTCC
Mutant sequence TCTCAATCCAATCAACTCTATACGA T AATTTTCCATTGTGCAAAAGACTCC






External sources:
dbSNP
rs75115087
Not found







No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 14
Asymptomatic compound heterozygote 1
CF 11
CFTR-RD2
  • CBAVD  2



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 51heterozygoteCF-causing - Trans
CF 4934heterozygoteCF-causing - Trans
CF 1697heterozygoteCF-causing- Undef
CF 1577heterozygoteCF-causing - Trans
CF 1551heterozygotevarying clinical consequence - Trans
CF 1525heterozygoteCF-causing - Trans
CF 969heterozygoteCF-causing - Trans
CF 371heterozygoteCF-causing - Trans
CF 363heterozygoteCF-causing - Trans
CF 298heterozygoteCF-causing - Trans
CF 3205heterozygoteCF-causing- Undef
VUS3- Undef
Asymptomatic compound heterozygote 372heterozygoteVUS1 - Trans
CBAVD 1486heterozygoteCFTR-RD-causing- Undef
CBAVD 424heterozygoteVUS3- 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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