NM_000492.4(CFTR):c.3845G>A (p.Trp1282Ter) AND Cystic fibrosis

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 29, 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:: RCV001263870.4

Allele description [Variation Report for NM_000492.4(CFTR):c.3845G>A (p.Trp1282Ter)]

NM_000492.4(CFTR):c.3845G>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.3845G>A (p.Trp1282Ter)

HGVS:

NC_000007.14:g.117642565G>A
NG_016465.4:g.181782G>A
NM_000492.4:c.3845G>AMANE SELECT
NP_000483.3:p.Trp1282Ter
LRG_663:g.181782G>A
NC_000007.13:g.117282619G>A

Protein change:

W1282*

Links:

dbSNP: rs1792935619

NCBI 1000 Genomes Browser:

rs1792935619

Molecular consequence:

NM_000492.4:c.3845G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Cystic fibrosis (CF)
Synonyms:: Mucoviscidosis
Identifiers:: MONDO: MONDO:0009061; MedGen: C0010674; Orphanet: 586; OMIM: 219700

Recent activity

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Homo sapiens NFE2 like bZIP transcription factor 2 (NFE2L2), transcript variant ...
Homo sapiens NFE2 like bZIP transcription factor 2 (NFE2L2), transcript variant 1, mRNA
gi|1531243743|ref|NM_006164.5|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001441968	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))	Likely pathogenic (Sep 29, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001441968

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))

Likely pathogenic
(Sep 29, 2019)

unknown

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV001441968.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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