catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117227860G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.1652G>A
Protein name NP_000483.3:p.(Gly551Asp)
Genomic name (hg19) chr7:g.117227860G>A    UCSC    gnomAD
#Exon/intron exon 12
Legacy Name G551D
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence GAAGGTGGAATCACACTGAGTGGAG G TCAACGAGCAAGAATTTCTTTAGCA
Mutant sequence GAAGGTGGAATCACACTGAGTGGAG A TCAACGAGCAAGAATTTCTTTAGCA


Additional information:
MAF (GnomAD) 3.00e-04
Splicing prediction (SpliceAI) AG: 0.00 (-48)
AL: 0.00 (27)
DG: 0.01 (27)
DL: 0.00 (-1)

External sources:
dbSNP
rs75527207

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


Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C65 1e-05 0 1
VUS5 VUS5 VUS5 VUS5
Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing



95 individuals carrying this variant are reported in CFTR-France


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

TOTAL NUMBER OF INDIVIDUALS 3
Suspicion of CF 3



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
cad190405Suspicion of CFMontpellier151220_Altieriheterozygous PASS 1233 129
cad190461Suspicion of CFMontpellier151220_Altieriheterozygous PASS 938 124
cad200365Suspicion of CFMontpellier151220_Altieriheterozygous PASS 1238 187





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