NM_000492.4(CFTR):c.3428T>A (p.Leu1143Ter) AND Cystic fibrosis

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 15, 2022
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:
RCV002308314.2

Allele description [Variation Report for NM_000492.4(CFTR):c.3428T>A (p.Leu1143Ter)]

NM_000492.4(CFTR):c.3428T>A (p.Leu1143Ter)

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.3428T>A (p.Leu1143Ter)
HGVS:
  • NC_000007.14:g.117614673T>A
  • NG_016465.4:g.153890T>A
  • NM_000492.4:c.3428T>AMANE SELECT
  • NP_000483.3:p.Leu1143Ter
  • NP_000483.3:p.Leu1143Ter
  • LRG_663t1:c.3428T>A
  • LRG_663:g.153890T>A
  • LRG_663p1:p.Leu1143Ter
  • NC_000007.13:g.117254727T>A
  • NM_000492.3:c.3428T>A
Protein change:
L1143*
Molecular consequence:
  • NM_000492.4:c.3428T>A - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002602008Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Mar 15, 2022) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002602008.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

NM_000492.3(CFTR):c.3428T>A(L1143*) is expected to be pathogenic in the context of cystic fibrosis. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in CFTR, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Dec 24, 2022