Variant NM_000492.4:c.1A>G


Variant details:
Name NM_000492.4:c.1A>G
Protein name NP_000483.3:p.?
Genomic name (hg19) chr7:g.117120149A>G    UCSC    gnomAD
#Exon/intron exon 1
Legacy Name M1V
Class disease-causing
Subclass CF-causing
WT sequence CAGGGACCCCAGCGCCCGAGAGACC A TGCAGAGGTCGCCTCTGGAAAAGGC
Mutant sequence CAGGGACCCCAGCGCCCGAGAGACC G TGCAGAGGTCGCCTCTGGAAAAGGC






External sources:
dbSNP
rs397508328
Not found


Functional studies:


Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
Van Goor et al, 2014 23891399 ✓ ✓ ✓
Sosnay et al, 2013 23974870 ✓ ✓


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





No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 9
CF 6
CFTR-RD3
  • CBAVD  2
  • Other  1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 97heterozygoteCF-causing - Trans
CF 119heterozygoteCF-causing - Trans
CF 190heterozygoteCF-causing- Undef
CF 602heterozygoteCF-causing - Trans
CF 2385heterozygoteCF-causing- Undef
CF 4596heterozygoteCF-causing - Trans
CBAVD 722heterozygoteCFTR-RD-causing - Trans
CBAVD 990heterozygotevarying clinical consequence- Undef
Other 789heterozygoteCFTR-RD-causing- Undef


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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