Variant NM_000492.4:c.3038C>T


Variant details:
Name NM_000492.4:c.3038C>T
Protein name NP_000483.3:p.(Pro1013Leu)
Genomic name (hg19) chr7:g.117250622C>T    UCSC    gnomAD
#Exon/intron exon 19
Legacy Name P1013L
Class VUS
Subclass VUS3
WT sequence ATAGCAGTTGTCGCAGTTTTACAAC C CTACATCTTTGTTGCAACAGTGCCA
Mutant sequence ATAGCAGTTGTCGCAGTTTTACAAC T CTACATCTTTGTTGCAACAGTGCCA


External sources:

Not found		dbSNP
rs193922516


Functional studies:


Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
Hammerle et al, 2001 11278813 ✓ ✓ ✓


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




Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C35 0.111 0.02 1
VUS2 VUS1 VUS5 VUS5

Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 1
CFTR-RD1
  • Pancreatitis  1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Pancreatitis 4975heterozygoteVUS4- 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.