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NM_000492.3(CFTR):c.874G>A (p.Glu292Lys) AND Cystic fibrosis

Germline classification:
not provided (1 submission)
Last evaluated:
Feb 1, 2013
Review status:
no classification provided
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:
RCV000047277.2

Allele description

NM_000492.3(CFTR):c.874G>A (p.Glu292Lys)

Gene:
CFTR:cystic fibrosis transmembrane conductance regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.3(CFTR):c.874G>A (p.Glu292Lys)
HGVS:
  • NC_000007.14:g.117540104G>A
  • NG_016465.4:g.79321G>A
  • NM_000492.3:c.874G>A
  • NP_000483.3:p.Glu292Lys
  • NC_000007.13:g.117180158G>A
Protein change:
E292K
Links:
dbSNP: rs397508811
NCBI 1000 Genomes Browser:
rs397508811
Molecular consequence:
  • NM_000492.3:c.874G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cystic fibrosis (CF)
Identifiers:
MedGen: C0010674; Orphanet: 586; OMIM: 219700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000075290Invitae,
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

The p.Arg258Gly mutation in intracellular loop 2 of CFTR is associated with CFTR-related disorders.

Masvidal L, Giménez J, Ramos MD, Domingo C, Farré A, Bassas L, Casals T.

Genet Test Mol Biomarkers. 2009 Dec;13(6):765-8. doi: 10.1089/gtmb.2009.0070.

PubMed [citation]
PMID:
19810821

Details of each submission

From Invitae,, SCV000075290.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 7, 2017