NM_000492.4(CFTR):c.3922G>T (p.Glu1308Ter) AND Cystic fibrosis

Clinical significance:Likely pathogenic (Last evaluated: Apr 12, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000577670.1

Allele description [Variation Report for NM_000492.4(CFTR):c.3922G>T (p.Glu1308Ter)]

NM_000492.4(CFTR):c.3922G>T (p.Glu1308Ter)

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.3922G>T (p.Glu1308Ter)
HGVS:
  • NC_000007.14:g.117652890G>T
  • NG_016465.4:g.192107G>T
  • NM_000492.3:c.3922G>T
  • NM_000492.4:c.3922G>TMANE SELECT
  • NP_000483.3:p.Glu1308Ter
  • NP_000483.3:p.Glu1308Ter
  • LRG_663t1:c.3922G>T
  • LRG_663:g.192107G>T
  • LRG_663p1:p.Glu1308Ter
  • NC_000007.13:g.117292944G>T
Protein change:
E1308*
Links:
dbSNP: rs397508643
NCBI 1000 Genomes Browser:
rs397508643
Molecular consequence:
  • NM_000492.3:c.3922G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000492.4:c.3922G>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000679086ClinVar Staff, National Center for Biotechnology Information (NCBI)no assertion providednot providedgermlineliterature only

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

SCV000790857Counsylcriteria provided, single submitter
Likely pathogenic
(Apr 12, 2017)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

CFTR mutations in cystic fibrosis patients from Murcia region (southeastern Spain): implications for genetic testing.

Moya-Quiles MR, Mondéjar-López P, Pastor-Vivero MD, González-Gallego I, Juan-Fita MJ, Egea-Mellado JM, Carbonell P, Casals T, Fernández-Sánchez A, Sánchez-Solís M, Glover G.

Clin Genet. 2009 Dec;76(6):577-9. doi: 10.1111/j.1399-0004.2009.01252.x. Epub 2009 Oct 21. No abstract available.

PubMed [citation]
PMID:
19845690

Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants.

Sánchez K, de Mendonca E, Matute X, Chaustre I, Villalón M, Takiff H.

Appl Clin Genet. 2016;9:33-8. doi: 10.2147/TACG.S78241.

PubMed [citation]
PMID:
27022295
PMCID:
PMC4789841
See all PubMed Citations (3)

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000679086.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Counsyl, SCV000790857.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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