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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

Help
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]

Help

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