U.S. flag

An official website of the United States government

NM_000492.4(CFTR):c.3874-4522A>G AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 29, 2018
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:
RCV001009398.2

Allele description [Variation Report for NM_000492.4(CFTR):c.3874-4522A>G]

NM_000492.4(CFTR):c.3874-4522A>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.3874-4522A>G
HGVS:
  • NC_000007.14:g.117648320A>G
  • NG_016465.4:g.187537A>G
  • NM_000492.4:c.3874-4522A>GMANE SELECT
  • LRG_663t1:c.3874-4522A>G
  • LRG_663:g.187537A>G
  • NC_000007.13:g.117288374A>G
  • NM_000492.3:c.3874-4522A>G
Links:
dbSNP: rs895394181
NCBI 1000 Genomes Browser:
rs895394181
Molecular consequence:
  • NM_000492.4:c.3874-4522A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cystic fibrosis (CF)
Synonyms:
Mucoviscidosis
Identifiers:
MONDO: MONDO:0009061; MedGen: C0010674; Orphanet: 586; OMIM: 219700
Name:
CFTR-related disorder (CFTR-RD)
Synonyms:
CFTR-related disorders; CFTR-related condition
Identifiers:

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001169251CFTR-France
criteria provided, single submitter

(Claustres M et al. (Hum Mutat 2017))
Pathogenic
(Jan 29, 2018)
germlinecuration

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, et al.

Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276. Epub 2017 Jun 28.

PubMed [citation]
PMID:
28603918

Details of each submission

From CFTR-France, SCV001169251.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

when the variant is in trans with another CF-causing variation, can either result in CF or in a CFTR-RD

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024