Variant NM_000492.4:c.2988+1G>A


Variant details:
Name NM_000492.4:c.2988+1G>A
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117246808G>A    UCSC    gnomAD
#Exon/intron intron 18
Legacy Name 3120+1G>A
Class disease-causing
Subclass CF-causing
WT sequence TCTTACCATATTTGACTTCATCCAG G TATGTAAAAATAAGTACCGTTAAGT
Mutant sequence TCTTACCATATTTGACTTCATCCAG A TATGTAAAAATAAGTACCGTTAAGT






External sources:
dbSNP
rs75096551
Not found







1 individuals carrying this variant are reported in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 41
CF 29
CFTR-RD6
  • Bronchiectasis  1
  • CBAVD  4
  • Pancreatitis  1
Pending 1
Pending (NBS) 5



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 4557heterozygoteCF-causing - Trans
CF 2604heterozygoteCF-causing - Trans
CF 2563heterozygoteCF-causing - Trans
CF 2552heterozygotevarying clinical consequence- Undef
CF 2498heterozygoteCF-causing- Undef
CF 2075heterozygoteVUS2- Undef
CF 1958heterozygoteCF-causing- Undef
CF 2624heterozygoteCF-causing- Undef
CF 3886heterozygoteCF-causing- Undef
CF 5328heterozygoteCF-causing- Undef
CF 3231heterozygotevarying clinical consequence- Undef
CF 5711heterozygotevarying clinical consequence - Trans
CF 5878heterozygoteCF-causing - Trans
CF 102heterozygoteCF-causing - Trans
CF 103heterozygoteCF-causing - Trans
CF 176heterozygoteCF-causing- Undef
CF 177heterozygoteCF-causing- Undef
CF 327heterozygoteCF-causing - Trans
CF 330heterozygoteCF-causing - Trans
CF 5529heterozygoteCF-causing - Trans
CF 1772heterozygoteCF-causing- Undef
CF 94heterozygoteCF-causing - Trans
CF 1919heterozygoteVUS4- Undef
CF-causing- Undef
CF 5100heterozygoteVUS5- Undef
CF 1826heterozygoteCF-causing- Undef
CF 1815heterozygoteVUS1- Undef
CF 790homozygotec.2988+1G>A - p.(=) - Trans
CF 101homozygotec.2988+1G>A - p.(=) - Trans
CF 2570homozygotec.2988+1G>A - p.(=) - Trans
CBAVD 2071heterozygotevarying clinical consequence - Trans
CBAVD 2631heterozygoteVUS3- Undef
varying clinical consequence- Undef
CBAVD 1957heterozygotevarying clinical consequence- Undef
CBAVD 656heterozygotevarying clinical consequence- Undef
Bronchiectasis 5034heterozygoteVUS3- Undef
Pending (NBS) 4354heterozygotevarying clinical consequence - Trans
Pending (NBS) 3919heterozygoteCF-causing - Trans
Pending (NBS) 5609heterozygoteVUS3 - Trans
Pending (NBS) 5372heterozygoteVUS3- Undef
Pending (NBS) 5299heterozygoteVUS3- Undef
Pancreatitis 2553heterozygote
Pending 5008heterozygotevarying clinical consequence- 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.



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