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    
Genomic name (hg38) chr7:g.117535363T>A    UCSC
#Exon/intron exon 6
Legacy Name V232D
Class disease-causing
Subclass varying clinical consequence
WT sequence TTCTGTGGACTTGGTTTCCTGATAG T CCTTGCCCTTTTTCAGGCTGGGCTA
Mutant sequence TTCTGTGGACTTGGTTTCCTGATAG A CCTTGCCCTTTTTCAGGCTGGGCTA

Other databases:
dbSNP
rs397508783



Pathogenicity predictors:



Response to modulators:


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

clinical and functional data presented above are provided by Vertex


No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 15
CF 6
CFTR-RD8
  • Bronchiectasis  3
  • CBAVD  1
  • Other  3
  • Pancreatitis  1
Pending (NBS) 1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Other 186heterozygoteCF-causing- Undef
Other 5701heterozygotevarying clinical consequence- Undef
Other 627heterozygoteCF-causing - Trans
CF 6315heterozygoteCF-causing- Undef
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 <   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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