NM_000492.4(CFTR):c.170G>A (p.Trp57Ter) AND CFTR-related disorder

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Aug 28, 2019
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:: RCV001826623.4

Allele description [Variation Report for NM_000492.4(CFTR):c.170G>A (p.Trp57Ter)]

NM_000492.4(CFTR):c.170G>A (p.Trp57Ter)

Genes:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
LOC113664106:CFTR intron 2 DNase I hypersensitive site [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.170G>A (p.Trp57Ter)

HGVS:

NC_000007.14:g.117509039G>A
NG_016465.4:g.48256G>A
NG_062452.1:g.677G>A
NM_000492.4:c.170G>AMANE SELECT
NP_000483.3:p.Trp57Ter
NP_000483.3:p.Trp57Ter
LRG_663t1:c.170G>A
LRG_663:g.48256G>A
LRG_663p1:p.Trp57Ter
NC_000007.13:g.117149093G>A
NM_000492.3:c.170G>A
p.Trp57X

Protein change:

W57*

Links:

dbSNP: rs397508279

NCBI 1000 Genomes Browser:

rs397508279

Molecular consequence:

NM_000492.4:c.170G>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

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002080080	Natera, Inc.	no assertion criteria provided	Pathogenic (Mar 17, 2017)	germline	clinical testing
SCV002507418	Genome Diagnostics Laboratory, The Hospital for Sick Children	no assertion criteria provided	Pathogenic (Aug 28, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002080080

Natera, Inc.

no assertion criteria provided

Pathogenic
(Mar 17, 2017)

germline

clinical testing

SCV002507418

Genome Diagnostics Laboratory, The Hospital for Sick Children

no assertion criteria provided

Pathogenic
(Aug 28, 2019)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002080080.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome Diagnostics Laboratory, The Hospital for Sick Children, SCV002507418.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine