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NM_000492.4(CFTR):c.850dup (p.Met284fs)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
5 (Most recent: Mar 6, 2020)
Last evaluated:
Dec 8, 2017
Accession:
VCV000189095.6
Variation ID:
189095
Description:
1bp duplication
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NM_000492.4(CFTR):c.850dup (p.Met284fs)

Allele ID
186744
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117536648-117536649 (GRCh38) GRCh38 UCSC
7: 117176702-117176703 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_663:g.75871dup
LRG_663t1:c.850dup LRG_663p1:p.Met284fs
NM_000492.3:c.850dup NP_000483.3:p.Met284fs frameshift
... more HGVS
Protein change
M284fs
Other names
-
Canonical SPDI
NC_000007.14:117536648:AAAAAA:AAAAAAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA274372
dbSNP: rs786204693
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 reviewed by expert panel Dec 8, 2017 RCV000169503.6
Pathogenic 1 criteria provided, single submitter Mar 28, 2016 RCV000790771.2
CFTR-related disorders
Pathogenic 1 no assertion criteria provided May 20, 2019 RCV001027912.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CFTR - - GRCh38
GRCh37
1972 2727

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 08, 2017)
reviewed by expert panel
Method: research
Cystic fibrosis
Allele origin: germline
CFTR2
Accession: SCV000924251.1
Submitted: (Mar 21, 2019)
Evidence details
Other databases
https://cftr2.org
Likely pathogenic
(Dec 18, 2014)
criteria provided, single submitter
Method: literature only
Cystic fibrosis
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000220966.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (2)
Pathogenic
(Mar 28, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000340673.3
Submitted: (Nov 03, 2016)
Evidence details
Other databases
http://geneticslab.emory.edu/emv…
Pathogenic
(Feb 21, 2019)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001362620.1
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (8)
Comment:
Variant summary: The variant, CFTR c.850dupA (p.Met284AsnfsX3, also known as legacy name 977insA) results in a premature termination codon, predicted to cause a truncation of … (more)
Pathogenic
(May 20, 2019)
no assertion criteria provided
Method: clinical testing
CFTR-related disorders
Allele origin: germline
Natera, Inc.
Accession: SCV001190635.1
Submitted: (Jun 10, 2019)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR. Trujillano D Molecular genetics & genomic medicine 2015 PMID: 26436105
Delayed diagnosis of females with respiratory presentation of cystic fibrosis did not segregate with poorer clinical outcome. McCormick J Journal of clinical epidemiology 2006 PMID: 16488363
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. Estivill X Human mutation 1997 PMID: 9259197
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene. Macek M Jr Human mutation 1997 PMID: 9067754
Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes. Hughes DJ Human mutation 1996 PMID: 8956039
Cystic fibrosis mutation analysis: report from 22 U.K. regional genetics laboratories. Schwarz MJ Human mutation 1995 PMID: 8680406
Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene. Ravnik-Glavac M Human molecular genetics 1994 PMID: 7521710
Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Cheadle JP Human molecular genetics 1993 PMID: 7684644
http://geneticslab.emory.edu/emvclass/emvclass.php?approved_symbol=CFTR - - - -
https://cftr2.org - - - -

Text-mined citations for rs786204693...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021