Variant NM_000492.4:c.695T>A


Variant details:
Name NM_000492.4:c.695T>A
Protein name NP_000483.3:p.(Val232Asp)
Genomic name (hg19) chr7:g.117175417T>A    UCSC    gnomAD
#Exon/intron exon 6
Legacy Name V232D
Class disease-causing
Subclass varying clinical consequence
WT sequence TTCTGTGGACTTGGTTTCCTGATAG T CCTTGCCCTTTTTCAGGCTGGGCTA
Mutant sequence TTCTGTGGACTTGGTTTCCTGATAG A CCTTGCCCTTTTTCAGGCTGGGCTA


External sources:
dbSNP
rs397508783




Response to modulators:


Modulator FDA approval EMA approval in vitro / ex vivo data clinical data
IVA yesnoyesno
TEZ-IVA yesnoyesno
ELX-TEZ-IVA yesnoyesno


clinical and functional data are provided by Vertex


Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C0 2e-05 0.01 0.744
VUS1 VUS5 VUS5 VUS4

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




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 14
CF 5
CFTR-RD8
  • Bronchiectasis  3
  • CBAVD  1
  • Other  3
  • Pancreatitis  1
Pending (NBS) 1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Other 186heterozygoteCF-causing- Undef
Other 5701heterozygotevarying clinical consequence- Undef
Other 627heterozygoteCF-causing - Trans
CF 5284heterozygoteCF-causing- Undef
CF 1800heterozygoteCF-causing- Undef
CF 4776heterozygotevarying clinical consequence - Trans
CF 637heterozygoteCF-causing - Trans
CF 5282heterozygoteCF-causing - Trans
Bronchiectasis 5283heterozygoteCF-causing - Trans
Bronchiectasis 4550heterozygoteCF-causing- Undef
Bronchiectasis 4868heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 1343heterozygoteCFTR-RD-causing- Undef
Pending (NBS) 1575heterozygoteCF-causing- Undef
Pancreatitis 5301homozygotec.695T>A - p.(Val232Asp) - 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.