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    gnomAD
#Exon/intron exon 8
Legacy Name T351S
Class VUS
Subclass VUS2
WT sequence TGCATTGTTCTGCGCATGGCGGTCA C TCGGCAATTTCCCTGGGCTGTACAA
Mutant sequence TGCATTGTTCTGCGCATGGCGGTCA G TCGGCAATTTCCCTGGGCTGTACAA


External sources:

Not found		dbSNP
rs1800086


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




Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C0 0.9929 0.8 0.946
VUS1 VUS1 VUS1 VUS5

Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing




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



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Asymptomatic compound heterozygote 5818heterozygoteVUS3- Undef
Asymptomatic compound heterozygote 4303heterozygoteCFTR-RD-causing- Undef
Pancreatitis 2098heterozygote
Pancreatitis 5865heterozygoteVUS3- Undef
Pancreatitis 5388heterozygoteCFTR-RD-causing- Undef
Pancreatitis 5102heterozygoteCFTR-RD-causing- Undef
Pancreatitis 1821heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Bronchiectasis 2501heterozygoteVUS3- Undef
Bronchiectasis 2168heterozygoteVUS3- Undef
CF 2635heterozygoteCF-causing- Undef
VUS4- Undef
CBAVD 4814heterozygoteCF-causing- Undef
CBAVD 2886heterozygoteCFTR-RD-causing- Undef
VUS4- Undef
VUS4- Undef
Other 4539heterozygoteVUS3- Undef
VUS1- 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.