Variant NM_000492.4:c.157T>G


Variant details:
Name NM_000492.4:c.157T>G
Protein name NP_000483.3:p.(Leu53Val)
Genomic name (hg19) chr7:g.117144410T>G    UCSC    
#Exon/intron exon 2
Legacy Name L53V
Class VUS
Subclass VUS
WT sequence TTCTGCTGACAATCTATCTGAAAAA T TGGAAAGGTATGTTCATGTACATTG
Mutant sequence TTCTGCTGACAATCTATCTGAAAAA G TGGAAAGGTATGTTCATGTACATTG

Other databases:

Not found
Not found		dbSNP
no rs



Pathogenicity predictors:





No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 1
CFTR-RD1
  • Bronchiectasis  1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Bronchiectasis 1090heterozygoteCF-causing - Cis
varying clinical consequence - Trans


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