Variant NM_000492.4:c.3230T>C


Variant details:
Name NM_000492.4:c.3230T>C
Protein name NP_000483.3:p.(Leu1077Pro)
Genomic name (hg19)     chr7:g.117251725T>C    UCSC    
Genomic name (hg38) chr7:g.117611671T>C    UCSC
#Exon/intron exon 20
Legacy Name L1077P
Class disease-causing
Subclass CF-causing
WT sequence GGACGGCAGCCTTACTTTGAAACTC T GTTCCACAAAGCTCTGAATTTACAT
Mutant sequence GGACGGCAGCCTTACTTTGAAACTC C GTTCCACAAAGCTCTGAATTTACAT

Other databases:
dbSNP
rs139304906



Pathogenicity predictors:

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 ✓ ✓ ✓
Sosnay et al, 2013 23974870 ✓ ✓


« ✓ » 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-IVAnononono
ELX-TEZ-IVA yesnoyesno
VNZ-TEZ-DIVA yesnono yes

clinical and functional data presented above are provided by Vertex


No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 5
CF 3
CFTR-RD1
  • CBAVD  1
Fetal bowel anomalies 1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Fetal bowel anomalies 917heterozygoteCF-causing - Trans
CBAVD 4824heterozygoteCFTR-RD-causing - Trans
CF 1584heterozygoteCF-causing - Trans
CF 2089heterozygoteCF-causing- Undef
CF 6023heterozygoteCF-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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