NM_000492.4(CFTR):c.263T>G (p.Leu88Ter) AND not specified

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 25, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000781278.1

Allele description [Variation Report for NM_000492.4(CFTR):c.263T>G (p.Leu88Ter)]

NM_000492.4(CFTR):c.263T>G (p.Leu88Ter)

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.263T>G (p.Leu88Ter)
HGVS:
  • NC_000007.14:g.117509132T>G
  • NG_016465.4:g.48349T>G
  • NG_062452.1:g.770T>G
  • NM_000492.4:c.263T>GMANE SELECT
  • NP_000483.3:p.Leu88Ter
  • NP_000483.3:p.Leu88Ter
  • LRG_663t1:c.263T>G
  • LRG_663:g.48349T>G
  • LRG_663p1:p.Leu88Ter
  • NC_000007.13:g.117149186T>G
  • NM_000492.3:c.263T>G
  • p.Leu88X
Protein change:
L88*
Links:
dbSNP: rs397508412
NCBI 1000 Genomes Browser:
rs397508412
Molecular consequence:
  • NM_000492.4:c.263T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000919191Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(May 25, 2018) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Double mutant alleles: are they rare?

Savov A, Angelicheva D, Balassopoulou A, Jordanova A, Noussia-Arvanitakis S, Kalaydjieva L.

Hum Mol Genet. 1995 Jul;4(7):1169-71.

PubMed [citation]
PMID:
8528204

Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.

Ko JM, Kim GH, Kim KM, Hong SJ, Yoo HW.

J Korean Med Sci. 2008 Oct;23(5):912-5. doi: 10.3346/jkms.2008.23.5.912.

PubMed [citation]
PMID:
18955805
PMCID:
PMC2580002
See all PubMed Citations (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000919191.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

Variant summary: CFTR c.263T>G (p.Leu88X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 245518 control chromosomes. c.263T>G has been reported in the literature in multiple individuals affected with Cystic Fibrosis (Savov 1995, Ko 2008, Tian 2016). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as pathogenic and likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024