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NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 9, 2020
Accession:
VCV000167069.5
Variation ID:
167069
Description:
single nucleotide variant
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NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)

Allele ID
177258
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q31.2
Genomic location
9: 105604256 (GRCh38) GRCh38 UCSC
9: 108366537 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.108366537C>A
NC_000009.12:g.105604256C>A
NM_001079802.2:c.411C>A MANE Select NP_001073270.1:p.Cys137Ter nonsense
... more HGVS
Protein change
C137*, C5*, C114*
Other names
-
Canonical SPDI
NC_000009.12:105604255:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
1000 Genomes Project 0.00020
Links
ClinGen: CA233995
dbSNP: rs537001725
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Mar 14, 2018 RCV000153239.6
Pathogenic 1 criteria provided, single submitter Oct 9, 2020 RCV001068213.2
Likely pathogenic 1 no assertion criteria provided Jul 31, 2014 RCV000984176.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FKTN - - GRCh38
GRCh37
541 585

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 14, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000613317.2
Submitted: (Aug 31, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(Mar 06, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000331565.4
Submitted: (Jun 30, 2017)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Oct 09, 2020)
criteria provided, single submitter
Method: clinical testing
Walker-Warburg congenital muscular dystrophy
Allele origin: germline
Invitae
Accession: SCV001233310.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change creates a premature translational stop signal (p.Cys137*) in the FKTN gene. It is expected to result in an absent or disrupted protein … (more)
Likely pathogenic
(-)
no assertion criteria provided
Method: research
Not provided
Allele origin: germline
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre
Accession: SCV000221624.1
Submitted: (Apr 14, 2015)
Evidence details
Likely pathogenic
(Jul 31, 2014)
no assertion criteria provided
Method: clinical testing
Fukuyama congenital muscular dystrophy
Allele origin: unknown
Counsyl
Accession: SCV001132193.1
Submitted: (Aug 05, 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
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. Sframeli M Neuromuscular disorders : NMD 2017 PMID: 28688748
Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden. Abouelhoda M Genetics in medicine : official journal of the American College of Medical Genetics 2016 PMID: 27124789
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Manzini MC Human mutation 2008 PMID: 18752264
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Godfrey C Brain : a journal of neurology 2007 PMID: 17878207
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Godfrey C Annals of neurology 2006 PMID: 17044012
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=FKTN - - - -

Text-mined citations for rs537001725...

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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 May 10, 2021