ClinVar Genomic variation as it relates to human health
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)
Variation ID: 3203 Accession: VCV000003203.75
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 9q31.2 9: 105620049-105620050 (GRCh38) [ NCBI UCSC ] 9: 108382330-108382331 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Oct 6, 2014 Jun 17, 2024 Mar 21, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001079802.2:c.1167dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001073270.1:p.Phe390fs frameshift NM_001079802.1:c.1167dupA NM_001198963.2:c.1167dup NP_001185892.1:p.Phe390fs frameshift NM_001351496.2:c.1167dup NP_001338425.1:p.Phe390fs frameshift NM_001351497.2:c.1098dup NP_001338426.1:p.Phe367fs frameshift NM_001351498.2:c.1167dup NP_001338427.1:p.Phe390fs frameshift NM_001351499.2:c.771dup NP_001338428.1:p.Phe258fs frameshift NM_001351500.2:c.771dup NP_001338429.1:p.Phe258fs frameshift NM_001351501.2:c.771dup NP_001338430.1:p.Phe258fs frameshift NM_001351502.2:c.771dup NP_001338431.1:p.Phe258fs frameshift NM_006731.2:c.1167dup NP_006722.2:p.Phe390fs frameshift NM_006731.2:c.1167dupA NR_147213.2:n.1118dup non-coding transcript variant NR_147214.2:n.1290dup non-coding transcript variant NC_000009.12:g.105620056dup NC_000009.11:g.108382337dup NG_008754.1:g.66927dup LRG_434:g.66927dup LRG_434t2:c.1167dup LRG_434p2:p.Phe390fs - Protein change
- F258fs, F367fs, F390fs
- Other names
- -
- Canonical SPDI
- NC_000009.12:105620049:AAAAAAA:AAAAAAAA
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- Links
- Comment on variant
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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FKTN | - | - |
GRCh38 GRCh37 |
998 | 1048 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (2) |
criteria provided, single submitter
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Mar 21, 2019 | RCV000003357.15 | |
Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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May 6, 2021 | RCV000003356.14 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Sep 12, 2023 | RCV000079427.27 | |
FKTN-related disorder
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Pathogenic (1) |
criteria provided, single submitter
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Nov 13, 2018 | RCV000778871.12 |
Pathogenic (2) |
criteria provided, single submitter
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Jan 31, 2024 | RCV000634081.17 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 24, 2022 | RCV002326661.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 23, 2022 | RCV002476917.8 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 21, 2024 | RCV003466792.2 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Jan 18, 2016)
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criteria provided, single submitter
Method: clinical testing
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Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698716.1
First in ClinVar: Jan 06, 2017 Last updated: Jan 06, 2017 |
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Pathogenic
(Nov 13, 2018)
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criteria provided, single submitter
Method: clinical testing
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FKTN-Related Disorders
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000915268.1
First in ClinVar: May 27, 2019 Last updated: May 27, 2019 |
Comment:
The FKTN c.1167dupA (p.Phe390IlefsTer14) variant results in a frameshift and is predicted to result in premature termination of the protein. Across a selection of the … (more)
The FKTN c.1167dupA (p.Phe390IlefsTer14) variant results in a frameshift and is predicted to result in premature termination of the protein. Across a selection of the literature, the p.Phe390IlefsTer14 variant has been reported in at least 13 individuals, four of whom are related, diagnosed with a range of conditions. The p.Phe390IlefsTer14 variant was reported to occur de novo in a Japanese individual with a severe Fukuyama congenital muscular dystrophy (FCMD), who also carried the common 3 kb retrotransposal insertion allele in the FKTN gene (Kondo-lida et al. 1999). The variant has also been reported also reported in a compound heterozygous state in three individuals presenting with a limb girdle muscular dystrophy with no intellectual disability or brain abnormalities; two of the individuals are related and carry the variant in trans with a missense variant while the third carried the variant in trans with a second frameshift variant (Godfrey et al. 2006). Additionally the p.Phe390IlefsTer14 variant has been reported in a homozygous state in nine individuals with Walker-Warburg syndrome, a more severe phenotype, all of whom are of Ashkenazi Jewish ancestry from non-consanguineous families and share a common haplotype. The variant was detected in two or 299 alleles in a healthy American Ashkenazi Jewish control population suggesting this may be a founder variant in this population (Cotarelo et al. 2008; Manzini et al. 2008; Chang et al. 2009). The p.Phe390IlefsTer14 variant is reported at a frequency of 0.007991 in the Ashkenazi Jewish population of the Genome Aggregation Database. Based on the collective evidence and potential impact of frameshift variants, the p.Phe390IlefsTer14 variant is classified as pathogenic for FKTN-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
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Pathogenic
(Nov 15, 2019)
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criteria provided, single submitter
Method: clinical testing
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Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV001193928.2
First in ClinVar: Apr 06, 2020 Last updated: Jul 03, 2020 |
Comment:
NM_001079802.1(FKTN):c.1167dupA(F390Ifs*14) is classified as pathogenic in the context of FKTN-related disorders. Sources cited for classification include the following: PMID 19266496, 18752264, 17878207, 10545611, 18177472 and … (more)
NM_001079802.1(FKTN):c.1167dupA(F390Ifs*14) is classified as pathogenic in the context of FKTN-related disorders. Sources cited for classification include the following: PMID 19266496, 18752264, 17878207, 10545611, 18177472 and 24144914. Classification of NM_001079802.1(FKTN):c.1167dupA(F390Ifs*14) is based on the following criteria: The variant causes a premature termination codon that is not expected to be targeted by nonsense-mediated mRNA decay; however, literature evidence strongly supports pathogenicity. Please note: this variant was assessed in the context of healthy population screening. (less)
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Pathogenic
(May 06, 2021)
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criteria provided, single submitter
Method: clinical testing
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Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002767381.1
First in ClinVar: Dec 24, 2022 Last updated: Dec 24, 2022 |
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism … (more)
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type 4A (MIM#253800). (I) 0106 - This gene is associated with autosomal recessive disease. Recessive pathogenic variants in this gene can cause three types of muscular dystrophy-dystroglycanopathy: a severe congenital form with brain and eye anomalies (type A4; MIM# 253800), formerly designated Fukuyama congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), or muscle-eye-brain disease (MEB), a less severe congenital form without impaired intellectual development (type B4; MIM# 613152), and a milder limb-girdle form (type C4; MIM# 611588). (I) 0205 - Variant is predicted to result in a truncated protein (premature termination codon is NOT located at least 54 nucleotides upstream of the final exon-exon junction) with less than 1/3 of the protein sequence affected. (SP) 0251 - This variant is heterozygous. (I) 0304 - Variant is present in gnomAD (v2) <0.01 for a recessive condition (97 heterozygotes, 0 homozygotes) and is enriched in the Ashkenazi Jewish population. (SP) 0604 - Variant is not predicted to truncate an established domain, motif, hotspot or informative constraint region. (I) 0702 - Other truncating variants comparable to the one identified in this case have strong previous evidence for pathogenicity. At least three downstream truncating variants have previously been classified as pathogenic (ClinVar, DECIPHER). (SP) 0801 - This variant has very strong previous evidence of pathogenicity in unrelated individuals. The variant has previously been reported as pathogenic in many individuals with muscular dystrophy-dystroglycanopathies and is considered to be a founder variant in the Ashkenazi Jewish population. When homozygous, the variant results in the severe congenital type 4A form of disease with brain and eye anomalies (MIM#253800), however the type can vary when in compound heterozygosity with a different variant (ClinVar, LOVD, PMID: 19266496). (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign (less)
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Pathogenic
(Sep 12, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002023727.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Jan 31, 2024)
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criteria provided, single submitter
Method: clinical testing
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Walker-Warburg congenital muscular dystrophy
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000755359.7
First in ClinVar: May 28, 2018 Last updated: Feb 20, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Phe390Ilefs*14) in the FKTN gene. While this is not anticipated to result in nonsense mediated decay, … (more)
This sequence change creates a premature translational stop signal (p.Phe390Ilefs*14) in the FKTN gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 72 amino acid(s) of the FKTN protein. This variant is present in population databases (rs756763804, gnomAD 0.8%). This premature translational stop signal has been observed in individual(s) with dystroglycanopathies (PMID: 17878207, 18177472, 18752264, 19266496, 27065010). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 3203). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Aug 24, 2022)
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criteria provided, single submitter
Method: clinical testing
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Cardiovascular phenotype
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002629460.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.1167dupA pathogenic mutation, located in coding exon 8 of the FKTN gene, results from a duplication of A at nucleotide position 1167, causing a … (more)
The c.1167dupA pathogenic mutation, located in coding exon 8 of the FKTN gene, results from a duplication of A at nucleotide position 1167, causing a translational frameshift with a predicted alternate stop codon (p.F390Ifs*14). This alteration occurs at the 3' terminus of theFKTN gene, is not expected to trigger nonsense-mediated mRNA decay, and impacts the last 15% of the protein. However, premature stop codons are typically deleterious in nature, a significant portion of the protein is affected, and the impacted region is critical for protein function (Ambry internal data). This mutation has been detected in both the compound heterozygous and homozygous states in individuals with Fukuyama congenital muscular dystrophy (FCMD) and Walker-Warburg syndrome (WWS). In addition, this mutation is present in 0.8% of healthy Ashkenazi Jewish individuals, and often occurs on one specific haplotype, suggesting it may be a founder mutation in this population (Kondo-Iida E et al. Hum. Mol. Genet., 1999 Nov;8:2303-9; Chang W et al. Prenat. Diagn., 2009 Jun;29:560-9; Cotarelo RP et al. Clin. Genet., 2008 Feb;73:139-45; Godfrey C et al. Ann. Neurol., 2006 Nov;60:603-10). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(Dec 06, 2012)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Eurofins Ntd Llc (ga)
Accession: SCV000331176.3
First in ClinVar: Dec 06, 2016 Last updated: Jul 30, 2019 |
Number of individuals with the variant: 7
Sex: mixed
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Affected status: unknown
Allele origin:
germline
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Baylor Genetics
Accession: SCV001163214.1
First in ClinVar: Feb 28, 2020 Last updated: Feb 28, 2020 |
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Pathogenic
(Mar 21, 2019)
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criteria provided, single submitter
Method: clinical testing
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Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4
Affected status: unknown
Allele origin:
germline
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Knight Diagnostic Laboratories, Oregon Health and Sciences University
Accession: SCV001448834.1
First in ClinVar: Dec 12, 2020 Last updated: Dec 12, 2020 |
Number of individuals with the variant: 1
Clinical Features:
Language impairment (present) , Delayed speech and language development (present) , Neurological speech impairment (present) , Global developmental delay (present) , Failure to thrive (present) … (more)
Language impairment (present) , Delayed speech and language development (present) , Neurological speech impairment (present) , Global developmental delay (present) , Failure to thrive (present) , Short stature (present) , Expressive language delay (present) , Receptive language delay (present) , Muscular hypotonia (present) , Generalized muscle weakness (present) , Abnormality of the immune system (present) , Abnormality of the fetal cardiovascular system (present) (less)
Sex: female
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Pathogenic
(Nov 30, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000329807.8
First in ClinVar: Dec 06, 2016 Last updated: Dec 17, 2022 |
Comment:
Reported in association with Fukuyama congenital muscular dystrophy (FCMD), limb girdle muscular dystrophy (LGMD), and Walker-Warburg syndrome (WWS) (Kondo-Iida et al., 1999; Godfrey et al., … (more)
Reported in association with Fukuyama congenital muscular dystrophy (FCMD), limb girdle muscular dystrophy (LGMD), and Walker-Warburg syndrome (WWS) (Kondo-Iida et al., 1999; Godfrey et al., 2006; Cotarelo et al., 2008; Manzini et al., 2008; Chang et al., 2009); Reported with a second variant in the FKTN gene in a patient with dilated cardiomyopathy; however, segregation information was not provided (Burstein et al., 2021); Founder mutation in the Ashkenazi Jewish population, present in 81/10350 (0.78%) alleles from individuals of Ashkenazi Jewish ancestry in large population cohorts (gnomAD; Cotarelo et al., 2008; Manzini et al., 2008; Chang et al., 2009); Frameshift variant predicted to result in protein truncation, as the last 72 amino acids are replaced with 13 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; This variant is associated with the following publications: (PMID: 18752264, 18177472, 19266496, 20961758, 10545611, 27065010, 29327352, 17044012, 31980526, 32746448) (less)
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Pathogenic
(Mar 23, 2022)
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criteria provided, single submitter
Method: clinical testing
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Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Autosomal recessive limb-girdle muscular dystrophy type 2M Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002776954.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Mar 21, 2024)
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criteria provided, single submitter
Method: clinical testing
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Dilated cardiomyopathy 1X
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004199715.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
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Pathogenic
(Feb 01, 2008)
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no assertion criteria provided
Method: literature only
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MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000023514.2
First in ClinVar: Apr 04, 2013 Last updated: Oct 06, 2014 |
Comment on evidence:
In a girl with severe FCMD (MDDGA4; 253800) including microphthalmia, Kondo-Iida et al. (1999) identified a 1-bp insertion (1279insA) in exon 9 of the FKTN … (more)
In a girl with severe FCMD (MDDGA4; 253800) including microphthalmia, Kondo-Iida et al. (1999) identified a 1-bp insertion (1279insA) in exon 9 of the FKTN gene, causing a frameshift and a premature stop at codon 403. The patient carried the founder insertion (607440.0001) from her mother; however, the 1-bp insertion could not be detected in the father by either SSCP or by direct sequencing, leading Kondo-Iida et al. (1999) to conclude that this was the first example of a de novo mutation. In a cell line from an Ashkenazi Jewish male diagnosed with Walker-Warburg syndrome (MDDGA4), Cotarelo et al. (2008) identified homozygosity for a 1-bp insertion within a stretch of 6 adenine residues in exon 9 (1160_1168insA). Cell lines from the unrelated, unaffected parents revealed that they were heterozygous carriers of the insertion. In 2 sibs and an unrelated child with FKTN-related limb-girdle muscular dystrophy (MDDGC4; 611588), Godfrey et al. (2006) identified compound heterozygosity for mutations in the FKTN gene. All 3 children had a 1-bp insertion in exon 9 (1167insA), which the authors stated was the same mutation as that identified by Kondo-Iida et al. (1999). The insertion was predicted to result in a frameshift at phe390 and premature termination, followed by nonsense-mediated decay of the mRNA transcript. The second mutant allele identified was a 1-bp deletion (607440.0008) in 1 child and a missense mutation (R307Q; 607440.0009) in 2 sibs. The patients showed early-onset proximal muscular dystrophy, normal intelligence and brain structure, and favorable response to steroid treatment. (less)
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Pathogenic
(Feb 01, 2008)
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no assertion criteria provided
Method: literature only
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MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000023515.2
First in ClinVar: Apr 04, 2013 Last updated: Oct 06, 2014 |
Comment on evidence:
In a girl with severe FCMD (MDDGA4; 253800) including microphthalmia, Kondo-Iida et al. (1999) identified a 1-bp insertion (1279insA) in exon 9 of the FKTN … (more)
In a girl with severe FCMD (MDDGA4; 253800) including microphthalmia, Kondo-Iida et al. (1999) identified a 1-bp insertion (1279insA) in exon 9 of the FKTN gene, causing a frameshift and a premature stop at codon 403. The patient carried the founder insertion (607440.0001) from her mother; however, the 1-bp insertion could not be detected in the father by either SSCP or by direct sequencing, leading Kondo-Iida et al. (1999) to conclude that this was the first example of a de novo mutation. In a cell line from an Ashkenazi Jewish male diagnosed with Walker-Warburg syndrome (MDDGA4), Cotarelo et al. (2008) identified homozygosity for a 1-bp insertion within a stretch of 6 adenine residues in exon 9 (1160_1168insA). Cell lines from the unrelated, unaffected parents revealed that they were heterozygous carriers of the insertion. In 2 sibs and an unrelated child with FKTN-related limb-girdle muscular dystrophy (MDDGC4; 611588), Godfrey et al. (2006) identified compound heterozygosity for mutations in the FKTN gene. All 3 children had a 1-bp insertion in exon 9 (1167insA), which the authors stated was the same mutation as that identified by Kondo-Iida et al. (1999). The insertion was predicted to result in a frameshift at phe390 and premature termination, followed by nonsense-mediated decay of the mRNA transcript. The second mutant allele identified was a 1-bp deletion (607440.0008) in 1 child and a missense mutation (R307Q; 607440.0009) in 2 sibs. The patients showed early-onset proximal muscular dystrophy, normal intelligence and brain structure, and favorable response to steroid treatment. (less)
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Pathogenic
(Apr 03, 2020)
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no assertion criteria provided
Method: clinical testing
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Walker-Warburg congenital muscular dystrophy
Affected status: unknown
Allele origin:
germline
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Natera, Inc.
Accession: SCV002081970.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
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Germline Functional Evidence
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 germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. | Chen R | Nature biotechnology | 2016 | PMID: 27065010 |
Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia. | Fiorillo C | Neuromuscular disorders : NMD | 2013 | PMID: 24144914 |
Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. | Chang W | Prenatal diagnosis | 2009 | PMID: 19266496 |
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 |
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. | Cotarelo RP | Clinical genetics | 2008 | PMID: 18177472 |
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 |
Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). | Kondo-Iida E | Human molecular genetics | 1999 | PMID: 10545611 |
Text-mined citations for rs398123555 ...
HelpRecord last updated Jun 23, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.
NCBI staff reviewed the sequence information reported in PubMed 10545611 Fig. 3 to determine the location of this allele on the current reference sequence.