catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117144344C/T


CFTR-NGS Variant details:
Name NM_000492.4:c.91C>T
Protein name NP_000483.3:p.(Arg31Cys)
Genomic name (hg19) chr7:g.117144344C>T    UCSC    gnomAD
#Exon/intron exon 2
Legacy Name R31C ; 223C/T
Type in CFTR-NGS catalogue -
Class in CFTR-France VUS
Subclass VUS4
WT sequence AATTTTGAGGAAAGGATACAGACAG C GCCTGGAATTGTCAGACATATACCA
Mutant sequence AATTTTGAGGAAAGGATACAGACAG T GCCTGGAATTGTCAGACATATACCA


Additional information:
MAF (GnomAD) 1.19e-03
Splicing prediction (SpliceAI) AG: 0.00 (-34)
AL: 0.00 (-37)
DG: 0.00 (-17)
DL: 0.00 (10)

External sources:
860
1001
 dbSNP
no rs

Variant validation:
Sanger
(present/not present/not verified)
 Minigene
(effect/no effect/not performed)
present not performed


Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C15 0.00316 0.02 0.989
VUS1 VUS5 VUS5 VUS5
Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing



16 individuals carrying this variant are reported in CFTR-France


2 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 2
CFTR-RD1
  • CFTR-RD  1
Pending (NBS) 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m8107CFTR-RDMontpellier150419_Altieriheterozygous PASS 2500 278
26Pending (NBS)Montpellier150517_varilhheterozygous PASS 4954 389





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