Variant NM_000492.4:c.3160C>G


Variant details:
Name NM_000492.4:c.3160C>G
Protein name NP_000483.3:p.(His1054Asp)
Genomic name (hg19) chr7:g.117251655C>G    UCSC    gnomAD
#Exon/intron exon 20
Legacy Name H1054D
Class disease-causing
Subclass CF-causing
WT sequence CACAGGCAGGAGTCCAATTTTCACT C ATCTTGTTACAAGCTTAAAAGGACT
Mutant sequence CACAGGCAGGAGTCCAATTTTCACT G ATCTTGTTACAAGCTTAAAAGGACT


External sources:
dbSNP
rs397508510


Functional studies:


Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
Seibert et al, 1996 8662892 ✓ ✓
Cotten et al, 1996 8702904 ✓
Van Goor et al, 2014 23891399 ✓ ✓ ✓


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


Response to modulators:


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


clinical and functional data are provided by Vertex


Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C0 1e-05 0 0.999
VUS1 VUS5 VUS5 VUS5

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 13
CFTR-RD1
  • Other  1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 920heterozygoteVUS2- Undef
CF-causing- Undef
CF 3723heterozygoteCF-causing- Undef
CF 3222heterozygoteCF-causing - Trans
CF 3217heterozygoteCF-causing - Trans
CF 3116heterozygoteCF-causing - Trans
CF 2128heterozygoteCF-causing- Undef
CF 2126heterozygoteCF-causing- Undef
CF 2122heterozygoteCF-causing- Undef
CF 1753heterozygoteCF-causing- Undef
CF 1683heterozygoteCF-causing- Undef
CF 1320heterozygoteCF-causing- Undef
CF 4797heterozygoteCF-causing - Trans
CF 4541heterozygoteCF-causing - Trans
Other 4808heterozygoteCF-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.