ClinVar Genomic variation as it relates to human health
NM_003640.5(ELP1):c.2204+6T>C
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_003640.5(ELP1):c.2204+6T>C
Variation ID: 6085 Accession: VCV000006085.51
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 9q31.3 9: 108899816 (GRCh38) [ NCBI UCSC ] 9: 111662096 (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 Apr 4, 2013 Feb 20, 2024 Jan 29, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_003640.5:c.2204+6T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
intron variant NM_001318360.2:c.1862+6T>C intron variant NM_001330749.2:c.1157+6T>C intron variant NC_000009.12:g.108899816A>G NC_000009.11:g.111662096A>G NG_008788.1:g.39513T>C LRG_251:g.39513T>C LRG_251t1:c.2204+6T>C - Protein change
- Other names
- IVS20DS, T-C, +6
- Canonical SPDI
- NC_000009.12:108899815:A:G
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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.
Trans-Omics for Precision Medicine (TOPMed) 0.00044
The Genome Aggregation Database (gnomAD) 0.00051
Exome Aggregation Consortium (ExAC) 0.00065
The Genome Aggregation Database (gnomAD), exomes 0.00065
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
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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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ELP1 | - | - |
GRCh38 GRCh37 |
2048 | 2091 |
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 (11) |
criteria provided, multiple submitters, no conflicts
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Mar 30, 2023 | RCV000006458.31 | |
Pathogenic (6) |
criteria provided, multiple submitters, no conflicts
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Jan 29, 2024 | RCV000058928.23 | |
Uncertain significance (1) |
no assertion criteria provided
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- | RCV000789357.1 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 1, 2019 | RCV002460887.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 16, 2023 | RCV003444194.1 |
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
(Aug 21, 2017)
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criteria provided, single submitter
Method: clinical testing
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Familial dysautonomia
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698209.1
First in ClinVar: Dec 26, 2017 Last updated: Dec 26, 2017 |
Comment:
Variant summary: The IKBKAP c.2204+6T>C variant involves the alteration of a conserved intronic nucleotide. MutationTaster predicts a damaging outcome for this variant. 4/5 splice prediction … (more)
Variant summary: The IKBKAP c.2204+6T>C variant involves the alteration of a conserved intronic nucleotide. MutationTaster predicts a damaging outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. However, multiple splicing studies have shown that this variant causes skipping of exon 20 (Slaugenhaupt_2001; Anderson_2001). This variant was found in 93/122048 control chromosomes at a frequency of 0.000762, which does not exceed the estimated maximal expected allele frequency of a pathogenic IKBKAP variant (0.001838). The variant is a common pathogenic variant found in the Askenazi Jewish population as a founder mutation. A carrier rate as high as 1 in 32 has been reported in this population (Dong_2002). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. (less)
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Pathogenic
(Apr 13, 2015)
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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: SCV000227662.5
First in ClinVar: Jun 28, 2015 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 10
Sex: mixed
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Pathogenic
(Nov 30, 2018)
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criteria provided, single submitter
Method: clinical testing
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Familial dysautonomia
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000916278.1
First in ClinVar: May 27, 2019 Last updated: May 27, 2019 |
Comment:
The IKBKAP c.2204+6T>C variant, also referred to as IVS20+6T>C, is a well-known pathogenic variant for familial dysautonomia (FD). The carrier frequency of this variant is … (more)
The IKBKAP c.2204+6T>C variant, also referred to as IVS20+6T>C, is a well-known pathogenic variant for familial dysautonomia (FD). The carrier frequency of this variant is 3.2% in FD patients of Ashkenazi Jewish descent, accounting for approximately 99% of disease alleles in this ethnic group (Dong et al. 2002; Shohat et al. 2014). In one study the c.2204+6T>C variant was found in 38 homozygotes and 2 compound heterozygotes all affected with familial dysautonomia (Anderson et al. 2001). The c.2204+6T>C variant has been reported at a frequency of 0.013900 in the Ashkenazi Jewish population of the Genome Aggregation Database. The c.2204+6T>C variant has been shown to affect mRNA splicing and cause tissue-specific skipping of exon 20, which leads to changes in neuronal gene expression and development (Slaugenhaupt et al. 2001; Anderson et al. 2001; Boone et al. 2012). Based on the collective evidence, the c.2204+6T>C variant is classified as pathogenic for familial dysautonomia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
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Pathogenic
(Jul 25, 2019)
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criteria provided, single submitter
Method: clinical testing
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Familial dysautonomia
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000712784.2
First in ClinVar: Apr 09, 2018 Last updated: Jul 06, 2020 |
Comment:
The c.2204+6T>C variant in IKBKAP has been reported in several individuals with familial dysautonomia and is a founder mutation in the Ashkenazi Jewish population (Slaugenhaupt … (more)
The c.2204+6T>C variant in IKBKAP has been reported in several individuals with familial dysautonomia and is a founder mutation in the Ashkenazi Jewish population (Slaugenhaupt 2001, Anderson 2001). This variant has been identified in 1.3% (139/10364) of Ashkenazi Jewish chromosomes and 0.003% (27/129012) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org) and is reported in ClinVar (Variation ID: 6085). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. This variant is located in the 5' splice region and was demonstrated to lead to aberrant splicing in vitro (Ibrahim 2007). In summary, this variant meets criteria to be classified as pathogenic for familial dysautonomia in an autosomal recessive manner based upon its biallelic occurrence in cases and demonstrated impact on splicing. ACMG/AMP Criteria applied: PM3_VeryStrong, PP3, PS3_Supporting. (less)
Number of individuals with the variant: 2
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Pathogenic
(Oct 06, 2019)
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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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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001714303.1
First in ClinVar: Jun 15, 2021 Last updated: Jun 15, 2021 |
Number of individuals with the variant: 1
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Pathogenic
(Oct 16, 2023)
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criteria provided, single submitter
Method: clinical testing
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Medulloblastoma
Affected status: unknown
Allele origin:
germline
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St. Jude Molecular Pathology, St. Jude Children's Research Hospital
Accession: SCV004171469.1
First in ClinVar: Dec 02, 2023 Last updated: Dec 02, 2023 |
Comment:
The ELP1 c.2204+6T>C intronic change results in a T to C substitution at the +6 position of intron 20 of the ELP1 gene. Algorithms that … (more)
The ELP1 c.2204+6T>C intronic change results in a T to C substitution at the +6 position of intron 20 of the ELP1 gene. Algorithms that predict the impact of sequence changes on splicing indicate no significant impact on splicing. However, several studies have demonstrated tissue-specific skipping of exon 20 (PMID: 11179008, 11179021, 29762696). Skipping of exon 20 is predicted to cause premature protein truncation or absence of protein due to nonsense-mediated decay. This variant has been reported in the homozygous and compound heterozygous state in individuals with familial dysautonomia (PMID: 11179021). This variant has a frequency of 1.34% in the Ashkenazi Jewish population in gnomAD v2.1.1 (https://gnomad.broadinstitute.org) and is considered to be an Ashkenazi Jewish founder mutation. In summary, this variant meets criteria to be classified as pathogenic. (less)
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Pathogenic
(Mar 30, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial dysautonomia
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002022180.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Oct 31, 2018)
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criteria provided, single submitter
Method: clinical testing
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Familial dysautonomia
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000894464.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
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Pathogenic
(Oct 18, 2019)
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criteria provided, single submitter
Method: clinical testing
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Familial dysautonomia
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV001194222.2
First in ClinVar: Apr 06, 2020 Last updated: Jul 06, 2020 |
Comment:
NM_003640.3(IKBKAP):c.2204+6T>C is classified as pathogenic in the context of familial dysautonomia. Sources cited for classification include the following: PMID 11179008, 22850346, 16964593, 11179021, 17206408. Classification … (more)
NM_003640.3(IKBKAP):c.2204+6T>C is classified as pathogenic in the context of familial dysautonomia. Sources cited for classification include the following: PMID 11179008, 22850346, 16964593, 11179021, 17206408. Classification of NM_003640.3(IKBKAP):c.2204+6T>C is based on the following criteria: This is a well-established pathogenic variant in the literature that has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. (less)
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Pathogenic
(Jul 05, 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: SCV000589336.7
First in ClinVar: Oct 22, 2013 Last updated: Mar 04, 2023 |
Comment:
Functional studies in a mouse model show that c.2204+6 T>C causes alternative splicing in specific tissues and results in the skipping of exon 20 in … (more)
Functional studies in a mouse model show that c.2204+6 T>C causes alternative splicing in specific tissues and results in the skipping of exon 20 in the brain and other neuronal tissue (Bochner et al., 2013); This variant is associated with the following publications: (PMID: 17206408, 27175728, 21821670, 23515154, 22190446, 21228398, 11179021, 16964593, 12687659, 12831599, 27065010, 22975760, 23159879, 11179008, 28404519, 30609409, 29289840, 28592461, 29762696, 16032383) (less)
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Pathogenic
(Oct 01, 2019)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002754700.2
First in ClinVar: Dec 03, 2022 Last updated: Apr 15, 2023 |
Comment:
The c.2204+6T>C intronic pathogenic mutation results from a T to C substitution 6 nucleotides after coding exon 19 in the IKBKAP gene. Of note, this … (more)
The c.2204+6T>C intronic pathogenic mutation results from a T to C substitution 6 nucleotides after coding exon 19 in the IKBKAP gene. Of note, this alteration is also designated as c.2507+6T>C or IVS20+6T>C in the published literature. This alteration has been reported in multiple unrelated individuals with familial dysautonomia (FD), and is reported to be the most common pathogenic alteration associated with this condition (Slaugenhaupt SA et al. Am. J. Hum. Genet., 2001 Mar;68:598-605; Anderson SL et al. Am. J. Hum. Genet., 2001 Mar;68:753-8; Boone N et al. Hum. Mutat., 2012 Mar;33:530-40). Skipping of exon 20, which is predicted to result in a frameshift, was detected in brain tissue from an individual affected with FD as well as in fibroblasts derived from multiple FD patients (Slaugenhaupt SA et al. Am. J. Hum. Genet., 2001 Mar;68:598-60; Boone N et al. Hum. Mutat., 2012 Mar;33:530-40; Bruun GH et al. Nucleic Acids Res., 2018 09;46:7938-7952; Ibrahim EC et al. Hum. Mutat., 2007 Jan;28:41-53). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(Jan 29, 2024)
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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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Invitae
Accession: SCV000218960.13
First in ClinVar: Mar 29, 2015 Last updated: Feb 20, 2024 |
Comment:
This sequence change falls in intron 20 of the ELP1 gene. It does not directly change the encoded amino acid sequence of the ELP1 protein. … (more)
This sequence change falls in intron 20 of the ELP1 gene. It does not directly change the encoded amino acid sequence of the ELP1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs111033171, gnomAD 1.4%), and has an allele count higher than expected for a pathogenic variant. This variant has been observed in individual(s) with familial dysautonomia (FD) (PMID: 11179021, 12116234). It is commonly reported in individuals of Ashkenazi Jewish ancestry (PMID: 11179008, 11179021, 12116234, 20301359). ClinVar contains an entry for this variant (Variation ID: 6085). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects ELP1 function (PMID: 11179008, 11179021, 22190446, 23515154). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Jan 01, 2007)
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no assertion criteria provided
Method: literature only
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DYSAUTONOMIA, FAMILIAL
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000026641.2
First in ClinVar: Apr 04, 2013 Last updated: Feb 17, 2020 |
Comment on evidence:
Slaugenhaupt et al. (2001) found that more than 99.5% of disease alleles causing familial dysautonomia (223900) in Ashkenazi Jewish individuals carried a donor splice site … (more)
Slaugenhaupt et al. (2001) found that more than 99.5% of disease alleles causing familial dysautonomia (223900) in Ashkenazi Jewish individuals carried a donor splice site mutation (IVS20+6T-C) which leads to deletion of exon 20 from mRNA. Haplotype analyses were consistent with a common founder. Anderson et al. (2001) identified the same mutation in Ashkenazi Jewish patients with familial dysautonomia. To determine why the mutation in position 6 of intron 20 causes aberrant splicing only in certain cases, Ibrahim et al. (2007) used an in silico approach to identify potential sequences involved in exon 20 skipping. Computational analyses of the exon 20 5-prime splice site itself predicted that this 9-nucleotide splicing signal, even when it contains the T-C mutation, is not sufficiently weak to explain the familial dysautonomia phenotype. However, the computational analysis predicted that both the upstream 3-prime splice site and exon 20 contain weak splicing signals, indicating that the familial dysautonomia 5-prime splice site, together with the surrounding splicing signals, are not adequate for defining exon 20. These in silico predictions were corroborated by IKBKAP minigenes in a rapid and simple in vitro coupled RNA polymerase II (see 180660) transcription/splicing assay. The weak splicing signals that flank the T-C mutation were validated as the underlying cause of familial dysautonomia in vivo using transient transfection assays. Together, the study demonstrated the general utility of combining in silico data with an in vitro RNA polymerase II transcription/splicing system for rapidly identifying critical sequences that underlie the numerous splicing disorders caused by otherwise silent mutations. (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Familial dysautonomia
Affected status: yes
Allele origin:
germline
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Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000734628.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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Uncertain significance
(-)
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no assertion criteria provided
Method: literature only
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Charcot-Marie-Tooth disease
Affected status: yes
Allele origin:
germline
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Inherited Neuropathy Consortium
Accession: SCV000928711.1
First in ClinVar: Jul 27, 2019 Last updated: Jul 27, 2019 |
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Pathogenic
(Jan 06, 2020)
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no assertion criteria provided
Method: curation
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Familial dysautonomia
Affected status: unknown
Allele origin:
germline
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Reproductive Health Research and Development, BGI Genomics
Accession: SCV001142401.1
First in ClinVar: Jan 13, 2020 Last updated: Jan 13, 2020 |
Comment:
NG_008788.1(NM_003640.3):c.2204+6T>C (IVS20+6T>C) in the ELP1 gene has an allele frequency of 0.013 in Ashkenazi Jewish subpopulation in the gnomAD database. The c.2204+6T>C splice site variant … (more)
NG_008788.1(NM_003640.3):c.2204+6T>C (IVS20+6T>C) in the ELP1 gene has an allele frequency of 0.013 in Ashkenazi Jewish subpopulation in the gnomAD database. The c.2204+6T>C splice site variant in the ELP1 gene has been previously reported as a founder mutation in the Ashkenazi Jewish population with a reported carrier frequency of 1 in 36 individuals (PMID: 11179008). Anderson et al. reported 38 homozygotes and 2 compound heterozygotes of this variant in patients with familial dysautonomia (PMID: 11179021). Splicing study demenstrated that normal splicing of the IKAP transcript results in removal of introns 19 and 20 and in retention of exon 20. In comparison, c.2204+6T>C in the donor splice site of intron 20 in the mutant allele results in removal of introns 19 and 20 and exon 20 (PMID: 11179021). Taken together, we interprete this variant as Pathogenic/Likely pathogenic. ACMG/AMP Criteria applied: PS4; PS3; PM3_Strong. (less)
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Pathogenic
(Sep 16, 2020)
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no assertion criteria provided
Method: clinical testing
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Familial dysautonomia
Affected status: unknown
Allele origin:
germline
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Natera, Inc.
Accession: SCV001457910.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics, Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001925450.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
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not provided
(-)
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no classification provided
Method: literature only
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Familial dysautonomia
Affected status: unknown
Allele origin:
germline
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GeneReviews
Accession: SCV002014565.2
First in ClinVar: Nov 11, 2021 Last updated: Oct 01, 2022 |
Comment:
Founder variant that accounts for >99.5% of pathogenic variants in Ashkenazi Jews
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not provided
(-)
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no classification provided
Method: not provided
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not provided
Affected status: not provided
Allele origin:
germline
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SNPedia
Accession: SCV000090449.1
First in ClinVar: Oct 22, 2013 Last updated: Oct 22, 2013 |
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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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Familial Dysautonomia. | Adam MP | - | 2021 | PMID: 20301359 |
Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells. | Bruun GH | Nucleic acids research | 2018 | PMID: 29762696 |
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. | Chen R | Nature biotechnology | 2016 | PMID: 27065010 |
Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model. | Bochner R | Human molecular genetics | 2013 | PMID: 23515154 |
Case scenario: perioperative administration of tocotrienols and green tea extract in a child with familial dysautonomia. | Cook-Sather SD | Anesthesiology | 2012 | PMID: 22850346 |
Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cells. | Boone N | Human mutation | 2012 | PMID: 22190446 |
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. | Buratti E | Nucleic acids research | 2007 | PMID: 17576681 |
Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia. | Hims MM | Journal of molecular medicine (Berlin, Germany) | 2007 | PMID: 17206408 |
Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia. | Ibrahim EC | Human mutation | 2007 | PMID: 16964593 |
Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews. | Dong J | American journal of medical genetics | 2002 | PMID: 12116234 |
Familial dysautonomia is caused by mutations of the IKAP gene. | Anderson SL | American journal of human genetics | 2001 | PMID: 11179021 |
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. | Slaugenhaupt SA | American journal of human genetics | 2001 | PMID: 11179008 |
Statistical features of human exons and their flanking regions. | Zhang MQ | Human molecular genetics | 1998 | PMID: 9536098 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ELP1 | - | - | - | - |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=IKBKAP | - | - | - | - |
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Text-mined citations for rs111033171 ...
HelpRecord last updated Mar 17, 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.