NM_000492.4(CFTR):c.1680-886A>G AND not specified

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 16, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000781239.2

Allele description [Variation Report for NM_000492.4(CFTR):c.1680-886A>G]

NM_000492.4(CFTR):c.1680-886A>G

Gene:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.1680-886A>G

Other names:

1811+1.6kbA->G; c.1679+1634A>G; 1812-886A>G; p.?

HGVS:

NC_000007.14:g.117589467A>G
NG_016465.4:g.128684A>G
NG_056131.3:g.2422A>G
NM_000492.4:c.1680-886A>GMANE SELECT
LRG_663t1:c.1680-886A>G
LRG_663:g.128684A>G
NC_000007.13:g.117229521A>G
NM_000492.3:c.1680-886A>G

Links:

dbSNP: rs397508266

Molecular consequence:

NM_000492.4:c.1680-886A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000919144	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (Nov 16, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 7534040, 23974870 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000919144

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Pathogenic
(Nov 16, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.

Chillón M, Dörk T, Casals T, Giménez J, Fonknechten N, Will K, Ramos D, Nunes V, Estivill X.

Am J Hum Genet. 1995 Mar;56(3):623-9.

PubMed [citation]

PMID:: 7534040
PMCID:: PMC1801150

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, Sharma N, Ramalho AS, Amaral MD, Dorfman R, Zielenski J, Masica DL, Karchin R, Millen L, Thomas PJ, Patrinos GP, Corey M, Lewis MH, Rommens JM, Castellani C, Penland CM, Cutting GR.

Nat Genet. 2013 Oct;45(10):1160-7. doi: 10.1038/ng.2745. Epub 2013 Aug 25.

PubMed [citation]

PMID:: 23974870
PMCID:: PMC3874936

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000919144.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

Variant summary: The CFTR c.1679+1634A>G variant involves the alteration of a non-conserved intronic nucleotide and 4/5 splice prediction tools predict a significant impact on normal splicing (creation of a novel splicing donor site). cDNA studies proved the aberrant splicing (Chillon_1995). This variant is absent in 30882 control chromosomes (gnomAD). This variant has been reported in many affected individuals. Functional studies showed that individuals with genotype deltaF508/c.1679+1634A>G have only 1%-3% of normal CFTR mRNA. This loss of 97% of normal CFTR mRNA must be responsible for the pancreatic insufficiency and for the severe CF phenotype in these patients (Chillion_1995 and Sosnay_2013). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 15, 2026

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