Variant NM_000492.4:c.3484C>T


Variant details:
Name NM_000492.4:c.3484C>T
Protein name NP_000483.3:p.(Arg1162*)
Genomic name (hg19) chr7:g.117267591C>T    UCSC    gnomAD
#Exon/intron exon 22
Legacy Name R1162X
Class disease-causing
Subclass CF-causing
WT sequence TTTATTTCAGATGCGATCTGTGAGC C GAGTCTTTAAGTTCATTGACATGCC
Mutant sequence TTTATTTCAGATGCGATCTGTGAGC T GAGTCTTTAAGTTCATTGACATGCC






External sources:
dbSNP
rs74767530
Not found







No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 34
Asymptomatic compound heterozygote 1
CF 26
CFTR-RD4
  • CBAVD  3
  • Other  1
Fetal bowel anomalies 1
Pending 1
Pending (NBS) 1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 2048heterozygoteCF-causing- Undef
CF 2548heterozygoteCF-causing- Undef
CF 3171heterozygoteCF-causing- Undef
CF 3179heterozygoteCF-causing - Trans
CF 3400heterozygoteCF-causing - Trans
CF 3418heterozygoteCF-causing - Trans
CF 3436heterozygoteCF-causing- Undef
CF 3505heterozygoteCF-causing- Undef
CF 3685heterozygoteCF-causing - Trans
CF 4098heterozygoteCF-causing- Undef
CF 4206heterozygoteCF-causing- Undef
CF 4507heterozygoteCF-causing- Undef
CF 4521heterozygoteCF-causing - Trans
CF 5373heterozygotevarying clinical consequence- Undef
CF 5113heterozygoteVUS3- Undef
CF 616heterozygoteCF-causing - Trans
CF 637heterozygotevarying clinical consequence - Trans
CF 649heterozygoteCF-causing - Trans
CF 706heterozygoteCF-causing - Trans
CF 929heterozygoteCF-causing - Trans
CF 1085heterozygoteCF-causing - Trans
CF 1150heterozygoteCF-causing - Trans
CF 1298heterozygoteCF-causing - Trans
CF 1531heterozygoteCF-causing - Trans
CF 2567homozygotec.3484C>T - p.(Arg1162*) - Trans
CF 22homozygotec.3484C>T - p.(Arg1162*) - Trans
Other 464heterozygoteVUS3- Undef
Asymptomatic compound heterozygote 5812heterozygoteVUS1- Undef
CBAVD 5002heterozygoteVUS3- Undef
CBAVD 5819heterozygoteCFTR-RD-causing- Undef
CBAVD 1430heterozygoteCFTR-RD-causing - Trans
Fetal bowel anomalies 1652heterozygoteCF-causing- Undef
Pending 3035heterozygote
Pending (NBS) 4555heterozygoteCFTR-RD-causing- 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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