Updates for c.1052C>G:
2024-10-14 Class updated from VUS2 to non disease-causing
2024-12-09 Variant classified as non-disease-causing on the basis of epidemiological data (in particular high frequency in the general population), the number and type of diagnosis for patients reported in CFTR-France and functional data




Variant NM_000492.4:c.1052C>G


Variant details:
Name NM_000492.4:c.1052C>G
Protein name NP_000483.3:p.(Thr351Ser)
Genomic name (hg19)     chr7:g.117180336C>G    UCSC    
Genomic name (hg38) chr7:g.117540282C>G    UCSC
#Exon/intron exon 8
Legacy Name T351S
Class non disease-causing
WT sequence TGCATTGTTCTGCGCATGGCGGTCA C TCGGCAATTTCCCTGGGCTGTACAA
Mutant sequence TGCATTGTTCTGCGCATGGCGGTCA G TCGGCAATTTCCCTGGGCTGTACAA

Other databases:

Not found		dbSNP
rs1800086



Pathogenicity predictors:

Functional studies:


Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
Bergougnoux et al, 2022 36567205 ✓ ✓ ✓ ✓ ✓


« ✓ » indicates the type of analysis performed and not the results



No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 13
Asymptomatic compound heterozygote 2
CF 1
CFTR-RD10
  • Bronchiectasis  2
  • CBAVD  2
  • Other  1
  • Pancreatitis  5




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Asymptomatic compound heterozygote 5818heterozygoteCFTR-RD-causing- Undef
Asymptomatic compound heterozygote 4303heterozygoteCFTR-RD-causing- Undef
Pancreatitis 2098heterozygote
Pancreatitis 5865heterozygoteVUS3- Undef
Pancreatitis 5388heterozygoteCFTR-RD-causing- Undef
Pancreatitis 5102heterozygoteCFTR-RD-causing- Undef
Pancreatitis 1821heterozygoteVUS3- Undef
Bronchiectasis 2501heterozygoteCFTR-RD-causing- Undef
Bronchiectasis 2168heterozygoteCFTR-RD-causing- Undef
CF 2635heterozygoteCF-causing- Undef
likely CFTR-RD- Undef
CBAVD 4814heterozygoteCF-causing- Undef
CBAVD 2886heterozygoteCFTR-RD-causing- Undef
VUS3- Undef
VUS3- Undef
Other 4539heterozygoteCFTR-RD-causing- Undef
non-CF- 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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