Variant NM_000492.4:c.3873+1G>A


Variant details:
Name NM_000492.4:c.3873+1G>A
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117282648G>A    UCSC    gnomAD
#Exon/intron intron 23
Legacy Name 4005+1G>A
Class disease-causing
Subclass CF-causing
WT sequence GAAAGCCTTTGGAGTGATACCACAG G TGAGCAAAAGGACTTAGCCAGAAAA
Mutant sequence GAAAGCCTTTGGAGTGATACCACAG A TGAGCAAAAGGACTTAGCCAGAAAA






External sources:
dbSNP
rs143570767
Not found







1 individuals carrying this variant are reported in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 17
CF 17



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 4739heterozygoteCF-causing - Trans
CF 4347heterozygoteCF-causing - Trans
CF 4165heterozygoteCF-causing - Trans
CF 4164heterozygoteCF-causing - Trans
CF 4129heterozygoteCF-causing- Undef
CF 4054heterozygoteCF-causing- Undef
CF 3916heterozygoteCF-causing- Undef
CF 3741heterozygoteCF-causing - Trans
CF 3693heterozygoteCF-causing - Trans
CF 3692heterozygoteCF-causing- Undef
CF 2856heterozygoteCF-causing- Undef
CF 2219heterozygoteCF-causing- Undef
CF 1692heterozygoteCF-causing- Undef
CF 1231heterozygoteCF-causing - Trans
CF 1081heterozygoteCF-causing - Trans
CF 672heterozygoteCF-causing - Trans
CF 4545heterozygoteCF-causing - 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.



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