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NM_000492.4(CFTR):c.1150G>T (p.Glu384Ter) AND Cystic fibrosis

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 22, 2019
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:
RCV001250526.1

Allele description [Variation Report for NM_000492.4(CFTR):c.1150G>T (p.Glu384Ter)]

NM_000492.4(CFTR):c.1150G>T (p.Glu384Ter)

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.1150G>T (p.Glu384Ter)
HGVS:
  • NC_000007.14:g.117542049G>T
  • NG_016465.4:g.81266G>T
  • NM_000492.4:c.1150G>TMANE SELECT
  • NP_000483.3:p.Glu384Ter
  • LRG_663t1:c.1150G>T
  • LRG_663:g.81266G>T
  • NC_000007.13:g.117182103G>T
  • NM_000492.3:c.1150G>T
Protein change:
E384*
Links:
dbSNP: rs1799061745
NCBI 1000 Genomes Browser:
rs1799061745
Molecular consequence:
  • NM_000492.4:c.1150G>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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001425331Johns Hopkins Genomics, Johns Hopkins University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(May 22, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Johns Hopkins Genomics, Johns Hopkins University, SCV001425331.1

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

Description

This CFTR variant is absent from large population datasets and has not been reported in ClinVar nor the literature, to our knowledge. This nonsense variant results in a premature stop codon in exon 9 (legacy exon 8) likely leading to nonsense-mediated decay and lack of protein production. CFTR c.1150G>T has been identified in multiple patients who also carry a second damaging CFTR variant, however, the phenotypic information provided is discrepant. This variant is considered likely pathogenic.

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

Last Updated: Apr 23, 2022