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NM_000492.4(CFTR):c.1678A>G (p.Arg560Gly) AND Cystic fibrosis

Germline classification:
not provided (1 submission)
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:
RCV000577276.1

Allele description [Variation Report for NM_000492.4(CFTR):c.1678A>G (p.Arg560Gly)]

NM_000492.4(CFTR):c.1678A>G (p.Arg560Gly)

Genes:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
LOC111674475:CFTR intron 11 enhancer [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.4(CFTR):c.1678A>G (p.Arg560Gly)
HGVS:
  • NC_000007.14:g.117587832A>G
  • NG_016465.4:g.127049A>G
  • NG_056131.3:g.787A>G
  • NM_000492.4:c.1678A>GMANE SELECT
  • NP_000483.3:p.Arg560Gly
  • NP_000483.3:p.Arg560Gly
  • LRG_663t1:c.1678A>G
  • LRG_663:g.127049A>G
  • LRG_663p1:p.Arg560Gly
  • NC_000007.13:g.117227886A>G
  • NM_000492.3:c.1678A>G
Protein change:
R560G
Links:
dbSNP: rs397508260
NCBI 1000 Genomes Browser:
rs397508260
Molecular consequence:
  • NM_000492.4:c.1678A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cystic fibrosis (CF)
Synonyms:
Mucoviscidosis
Identifiers:
MONDO: MONDO:0009061; 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
SCV000678919ClinVar Staff, National Center for Biotechnology Information (NCBI)
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

Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.

Alonso MJ, Heine-Suñer D, Calvo M, Rosell J, Giménez J, Ramos MD, Telleria JJ, Palacio A, Estivill X, Casals T.

Ann Hum Genet. 2007 Mar;71(Pt 2):194-201.

PubMed [citation]
PMID:
17331079

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000678919.1

#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: Apr 23, 2022