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NM_000492.4(CFTR):c.2259C>G (p.Ser753Arg) 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:
RCV000577629.1

Allele description [Variation Report for NM_000492.4(CFTR):c.2259C>G (p.Ser753Arg)]

NM_000492.4(CFTR):c.2259C>G (p.Ser753Arg)

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.2259C>G (p.Ser753Arg)
HGVS:
  • NC_000007.14:g.117592426C>G
  • NG_016465.4:g.131643C>G
  • NM_000492.4:c.2259C>GMANE SELECT
  • NP_000483.3:p.Ser753Arg
  • NP_000483.3:p.Ser753Arg
  • LRG_663t1:c.2259C>G
  • LRG_663:g.131643C>G
  • LRG_663p1:p.Ser753Arg
  • NC_000007.13:g.117232480C>G
  • NM_000492.3:c.2259C>G
Protein change:
S753R
Links:
dbSNP: rs201888075
NCBI 1000 Genomes Browser:
rs201888075
Molecular consequence:
  • NM_000492.4:c.2259C>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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000678983ClinVar Staff, National Center for Biotechnology Information (NCBI)
no classification provided
not providedgermlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Novel CFTR missense mutations in Brazilian patients with congenital absence of vas deferens: counseling issues.

Pieri Pde C, Missaglia MT, Roque Jde A, Moreira-Filho CA, Hallak J.

Clinics (Sao Paulo). 2007 Aug;62(4):385-90.

PubMed [citation]
PMID:
17823699

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000678983.1

#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