Variant NM_000492.4:c.3528del


Variant details:
Name NM_000492.4:c.3528del
Protein name NP_000483.3:p.(Lys1177Serfs*15)
Genomic name (hg19) chr7:g.117267635del    UCSC    
#Exon/intron exon 22
Legacy Name 3659delC
Class disease-causing
Subclass CF-causing
WT sequence ACATGCCAACAGAAGGTAAACCTAC C AAGTCAACCAAACCATACAAGAATG
Mutant sequence ACATGCCAACAGAAGGTAAACCTAC - AAGTCAACCAAACCATACAAGAATG






External sources:
dbSNP
rs121908747
Not found







No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 30
Asymptomatic compound heterozygote 1
CF 25
CFTR-RD1
  • CBAVD  1
Fetal bowel anomalies 1
Pending 2



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Pending 4819heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Pending 2228heterozygoteVUS3- Undef
CF 1975heterozygoteCF-causing- Undef
CF 2029heterozygoteCF-causing - Trans
CF 3481heterozygoteCF-causing- Undef
CF 3603heterozygoteCF-causing- Undef
CF 3839heterozygoteCF-causing- Undef
CF 4381heterozygoteCF-causing- Undef
CF 4413heterozygoteCF-causing - Trans
CF 4443heterozygoteCF-causing - Trans
CF 4460heterozygoteCF-causing - Trans
CF 4496heterozygoteCF-causing - Trans
CF 1933heterozygoteCF-causing- Undef
CF 1790heterozygoteCF-causing- Undef
CF 209heterozygoteCF-causing- Undef
CF 303heterozygoteCF-causing - Trans
CF 365heterozygoteCF-causing - Trans
CF 368heterozygoteCF-causing - Trans
CF 502heterozygoteCF-causing- Undef
CF 953heterozygoteCF-causing - Trans
CF 989heterozygoteCF-causing- Undef
CF 5227heterozygoteCF-causing - Trans
CF 5526heterozygoteCF-causing - Trans
CF 1086heterozygoteCF-causing- Undef
CF 1629heterozygoteCF-causing- Undef
CF 1717heterozygoteCF-causing- Undef
CF 4538heterozygoteVUS3 - Trans
CF-causing - Trans
CBAVD 1308heterozygoteCFTR-RD-causing- Undef
Fetal bowel anomalies 4802heterozygoteVUS2 - Trans
Asymptomatic compound heterozygote 4345heterozygoteCFTR-RD-causing - Trans
CFTR-RD-causing - Trans


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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