NM_000492.3(CFTR):c.2769C>T (p.Ala923=) AND not specified

Clinical significance:Likely benign (Last evaluated: Dec 18, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000855556.2

Allele description [Variation Report for NM_000492.3(CFTR):c.2769C>T (p.Ala923=)]

NM_000492.3(CFTR):c.2769C>T (p.Ala923=)

Gene:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.3(CFTR):c.2769C>T (p.Ala923=)
HGVS:
  • NC_000007.14:g.117603643C>T
  • NG_016465.4:g.142860C>T
  • NM_000492.3:c.2769C>T
  • NP_000483.3:p.Ala923=
  • LRG_663t1:c.2769C>T
  • LRG_663:g.142860C>T
  • LRG_663p1:p.Ala923=
  • NC_000007.13:g.117243697C>T
  • NP_000483.3:p.(=)
Links:
dbSNP: rs1800108
NCBI 1000 Genomes Browser:
rs1800108
Molecular consequence:
  • NM_000492.3:c.2769C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000696922Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely benign
(Dec 18, 2020)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations of the cystic fibrosis gene in patients with bronchiectasis associated with rheumatoid arthritis.

Puéchal X, Bienvenu T, Génin E, Berthelot JM, Sibilia J, Gaudin P, Marcelli C, Lasbleiz S, Michou L, Cornélis F, Kahan A, Dusser DJ.

Ann Rheum Dis. 2011 Apr;70(4):653-9. doi: 10.1136/ard.2010.142760. Epub 2010 Dec 3.

PubMed [citation]
PMID:
21131649

Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations.

Ramalho AS, Clarke LA, Sousa M, Felicio V, Barreto C, Lopes C, Amaral MD.

J Cyst Fibros. 2016 Jan;15(1):21-33. doi: 10.1016/j.jcf.2015.02.002. Epub 2015 Feb 27.

PubMed [citation]
PMID:
25735457
See all PubMed Citations (4)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000696922.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 6, 2021

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