Variant NM_000492.4:c.3038C>A


Variant details:
Name NM_000492.4:c.3038C>A
Protein name NP_000483.3:p.(Pro1013His)
Genomic name (hg19) chr7:g.117250622C>A    UCSC    
#Exon/intron exon 19
Legacy Name P1013H
Class VUS
Subclass non-CF
WT sequence ATAGCAGTTGTCGCAGTTTTACAAC C CTACATCTTTGTTGCAACAGTGCCA
Mutant sequence ATAGCAGTTGTCGCAGTTTTACAAC A CTACATCTTTGTTGCAACAGTGCCA

Other databases:

Not found		dbSNP
rs193922516



Pathogenicity predictors:





No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 4
CFTR-RD3
  • Aquagenic palmoplantar keratoderma  1
  • Other  2
Pending (NBS) 1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Pending (NBS) 5748heterozygoteCF-causing- Undef
Other 5810heterozygoteCF-causing- Undef
Other 4530heterozygoteCFTR-RD-causing - Trans
Aquagenic palmoplantar keratoderma 5613heterozygote


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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