Variant NM_000492.4:c.3281_3367+268delinsTGTTAA


Variant details:
Name NM_000492.4:c.3281_3367+268delinsTGTTAA
Protein name NP_000483.3:p.?
Genomic name (hg19)     chr7:g.117251776_117252130delinsTGTTAA    UCSC    
Genomic name (hg38) chr7:g.117611722_117612076delinsTGTTAA    UCSC
#Exon/intron intron 20
Legacy Name 3413_3499+268del355bpins6bp
Class disease-causing
Subclass CF-causing
WT sequence NNNNNNNNNNNNNNN...GGTTCTTGTACCTGTCAACACTGCGCTGGT...TATATAGTATTATCCCTGTTTTCACAGTTT...NNNNN
Mutant sequence NNNNNNNNNNNNNNN...GGTTCTTGTACCTGT..............TGTTAA..............CTGTTTTCACAGTTT...NNNNN

Other databases:

Not found		 dbSNP
no rs








Pathogenicity predictors:

Not found
Not found




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 1
CF 1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 6506heterozygoteCF-causing- 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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