Variant NM_000492.4:c.1680-886A>G


Variant details:
Name NM_000492.4:c.1680-886A>G
Protein name NP_000483.3:p.(=)
Genomic name (hg19)     chr7:g.117229521A>G    UCSC    
Genomic name (hg38) chr7:g.117589467A>G    UCSC
#Exon/intron intron 12
Legacy Name 1811+1.6kbA>G
Class disease-causing
Subclass CF-causing
WT sequence ACAGAGAATCCTATGTACTTGAGAT A TAAGTAAGGTTACTATCAATCACAC
Mutant sequence ACAGAGAATCCTATGTACTTGAGAT G TAAGTAAGGTTACTATCAATCACAC

Other databases:
dbSNP
rs397508266







Pathogenicity predictors:

Not found




Response to modulators:


Reference PMID Modulator in vitro / ex vivo data clinical data Patient responsiveness
Burgel et al., 2024 39151434 ELX-TEZ-IVAN.D. yesno



No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 28
CF 27
CFTR-RD1
  • CBAVD  1




Color code:   non disease-causing <   likely benign <   VUS <   likely pathogenic <   disease-causing

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 36heterozygoteCF-causing - Trans
CF 954heterozygoteCF-causing - Trans
CF 960heterozygoteCF-causing - Trans
CF 4786heterozygoteCF-causing- Undef
CF 1103heterozygoteCF-causing - Trans
CF 1190heterozygoteCF-causing - Trans
CF 1211heterozygoteCF-causing- Undef
CF 1223heterozygoteCF-causing - Trans
CF 1605heterozygoteCF-causing- Undef
CF 1638heterozygoteCF-causing- Undef
CF 1913heterozygoteCF-causing- Undef
CF 2178heterozygoteCF-causing- Undef
CF 869heterozygoteCF-causing - Trans
CF 846heterozygoteCF-causing - Trans
CF 196heterozygoteCF-causing- Undef
CF 198heterozygoteCF-causing- Undef
CF 199heterozygoteCF-causing- Undef
CF 201heterozygoteCF-causing- Undef
CF 216heterozygoteCF-causing - Trans
CF 244heterozygoteCF-causing - Trans
CF 6527heterozygoteCF-causing- Undef
CF 247heterozygoteVUS3 - Trans
CF 255heterozygoteCF-causing - Trans
CF 617heterozygotevarying clinical consequence- Undef
CF 1074homozygotec.1680-886A>G - p.(=) - Trans
CF 772homozygotec.1680-886A>G - p.(=) - Trans
CF 1199homozygotec.1680-886A>G - p.(=) - Trans
CBAVD 530heterozygotevarying clinical consequence- Undef


Color code:   non disease-causing <   likely benign <   VUS <   likely pathogenic <   disease-causing



            CFTR variants are clustered into five groups (click here for more details about the classification of variants):
  • 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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