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NM_001079802.2(FKTN):c.910+14G>A

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(4);Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
9 (Most recent: Sep 23, 2021)
Last evaluated:
Feb 9, 2020
Accession:
VCV000093525.7
Variation ID:
93525
Description:
single nucleotide variant
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NM_001079802.2(FKTN):c.910+14G>A

Allele ID
99430
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q31.2
Genomic location
9: 105615421 (GRCh38) GRCh38 UCSC
9: 108377702 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.12:g.105615421G>A
NG_008754.1:g.62292G>A
NM_006731.2:c.910+14G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:105615420:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00499 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.01127
The Genome Aggregation Database (gnomAD) 0.00790
Exome Aggregation Consortium (ExAC) 0.01183
1000 Genomes Project 0.00499
Trans-Omics for Precision Medicine (TOPMed) 0.00737
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00892
Links
ClinGen: CA285436
dbSNP: rs76180538
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 6 criteria provided, multiple submitters, no conflicts May 19, 2016 RCV000079440.10
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV001165723.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001165724.1
Benign 1 criteria provided, single submitter Feb 9, 2020 RCV001289638.2
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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
547 591

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000306358.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Dec 21, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000168565.11
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001327954.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1X
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001327955.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Feb 09, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001477602.1
Submitted: (Dec 11, 2020)
Evidence details
Likely benign
(May 19, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000594789.1
Submitted: (Jul 05, 2017)
Evidence details
Benign
(Nov 29, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000111319.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001966814.1
Submitted: (Sep 21, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001932613.1
Submitted: (Sep 23, 2021)
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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=FKTN - - - -

Text-mined citations for rs76180538...

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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 Nov 11, 2021