Variant NM_000492.4:c.331C>G


Variant details:
Name NM_000492.4:c.331C>G
Protein name NP_000483.3:p.(Pro111Ala)
Genomic name (hg19) chr7:g.117171010C>G    UCSC    gnomAD
#Exon/intron exon 4
Legacy Name P111A
Class disease-causing
Subclass CFTR-RD-causing
WT sequence GGGAAGAATCATAGCTTCCTATGAC C CGGATAACAAGGAGGAACGCTCTAT
Mutant sequence GGGAAGAATCATAGCTTCCTATGAC G CGGATAACAAGGAGGAACGCTCTAT


External sources:

Not found		dbSNP
rs397508541


Functional studies:


Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
Hammerle et al, 2001 11278813 ✓ ✓ ✓


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




Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C0 0.665 0.76 0.087
VUS1 VUS1 VUS1 VUS1

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



No patient found in CFTR-NGS catalogue

No patient found in CFTR-France



            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.