catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117243783T/C


CFTR-NGS Variant details:
Name NM_000492.4:c.2855T>C
Protein name NP_000483.3:p.(Met952Thr)
Genomic name (hg19) chr7:g.117243783T>C    UCSC    gnomAD
#Exon/intron exon 17
Legacy Name M952T
Type in CFTR-NGS catalogue -
Class in CFTR-France VUS
Subclass VUS5
WT sequence GTGTCGAAAATTTTACACCACAAAA T GTTACATTCTGTTCTTCAAGCACCT
Mutant sequence GTGTCGAAAATTTTACACCACAAAA C GTTACATTCTGTTCTTCAAGCACCT


Additional information:
MAF (GnomAD) 1.81e-04
Splicing prediction (SpliceAI) AG: 0.00 (-24)
AL: 0.00 (21)
DG: 0.00 (49)
DL: 0.00 (-44)

External sources:
dbSNP
rs142773283

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


Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C45 0.00018 0.01 0.992
VUS4 VUS5 VUS5 VUS5
Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing



4 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
5CFTR-RDMontpellier150517_varilhheterozygous PASS 4100 398
11Pending (NBS)Montpellier150517_varilhheterozygous PASS 4597 434





Go to CFTRare
VLMCHUUM