U.S. flag

An official website of the United States government

NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) AND CFTR-related disorder

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jul 3, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV002228015.12

Allele description [Variation Report for NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)]

NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)

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.3846G>A (p.Trp1282Ter)
HGVS:
  • NC_000007.14:g.117642566G>A
  • NG_016465.4:g.181783G>A
  • NM_000492.4:c.3846G>AMANE SELECT
  • NP_000483.3:p.Trp1282Ter
  • NP_000483.3:p.Trp1282Ter
  • LRG_663t1:c.3846G>A
  • LRG_663:g.181783G>A
  • LRG_663p1:p.Trp1282Ter
  • NC_000007.13:g.117282620G>A
  • NM_000492.3:c.3846G>A
  • NM_000492.4:c.3846G>A
  • p.Trp1282*
  • p.Trp1282X
Protein change:
W1282*; TRP1282TER
Links:
Genetic Testing Registry (GTR): GTR000074114; Genetic Testing Registry (GTR): GTR000500233; OMIM: 602421.0022; dbSNP: rs77010898
NCBI 1000 Genomes Browser:
rs77010898
Molecular consequence:
  • NM_000492.4:c.3846G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
CFTR-related disorder (CFTR-RD)
Synonyms:
CFTR-related disorders; CFTR-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002507410Genome Diagnostics Laboratory, The Hospital for Sick Children
no assertion criteria provided
Pathogenic
(Jul 29, 2019) 		germlineclinical testing

SCV005355762PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Jul 3, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Genome Diagnostics Laboratory, The Hospital for Sick Children, SCV002507410.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From PreventionGenetics, part of Exact Sciences, SCV005355762.1

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

Description

The CFTR c.3846G>A variant is predicted to result in premature protein termination (p.Trp1282*). This variant has been reported to be causative for cystic fibrosis in several individuals (see for example, Grody et al. 2001. PubMed ID: 11280952; Sosnay et al. 2013. PubMed ID: 23974870). This variant is reported in 0.97% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. Nonsense variants in CFTR are expected to be pathogenic. This variant is interpreted as pathogenic.

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

Last Updated: Oct 13, 2024