Updates for c.1125A>C:
2025-11-07 Class updated from VUS to likely pathogenic / likely CFTR-RD (based on patients data)




Variant NM_000492.4:c.1125A>C


Variant details:
Name NM_000492.4:c.1125A>C
Protein name NP_000483.3:p.(Leu375Phe)
Genomic name (hg19)     chr7:g.117182078A>C    UCSC    
Genomic name (hg38) chr7:g.117542024A>C    UCSC
#Exon/intron exon 9
Legacy Name L375F
Class likely pathogenic
Subclass likely CFTR-RD
WT sequence CTCTCTTTTATAAATAGGATTTCTT A CAAAAGCAAGAATATAAGACATTGG
Mutant sequence CTCTCTTTTATAAATAGGATTTCTT C CAAAAGCAAGAATATAAGACATTGG

Other databases:

Not found		dbSNP
rs73215912



Pathogenicity predictors:




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 6
Asymptomatic compound heterozygote 1
CFTR-RD5
  • CBAVD  3
  • Other  1
  • Pancreatitis  1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 1466heterozygoteCF-causing- Undef
CBAVD 6539heterozygotevarying clinical consequence- Undef
CBAVD 6543heterozygoteCFTR-RD-causing- Undef
non-CF- Undef
Asymptomatic compound heterozygote 6540heterozygoteCFTR-RD-causing- Undef
Pancreatitis 6541heterozygoteCFTR-RD-causing- Undef
Other 6542heterozygoteCF-causing- 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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