ClinVar Genomic variation as it relates to human health
NM_000256.3(MYBPC3):c.3190+5G>A
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_000256.3(MYBPC3):c.3190+5G>A
Variation ID: 155808 Accession: VCV000155808.55
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p11.2 11: 47333552 (GRCh38) [ NCBI UCSC ] 11: 47355103 (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 May 29, 2016 May 12, 2024 Feb 29, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000256.3:c.3190+5G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
intron variant NC_000011.10:g.47333552C>T NC_000011.9:g.47355103C>T NG_007667.1:g.24151G>A LRG_386:g.24151G>A LRG_386t1:c.3190+5G>A - Protein change
- Other names
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- Canonical SPDI
- NC_000011.10:47333551:C:T
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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) 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
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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MYBPC3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3892 | - |
Conditions - Germline
Condition
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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, multiple submitters, no conflicts
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Feb 29, 2024 | RCV000143916.9 | |
Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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Jan 11, 2022 | RCV000158222.29 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Jan 8, 2024 | RCV000227910.19 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 3, 2022 | RCV000620265.4 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 1, 2017 | RCV000626633.3 | |
Pathogenic/Likely pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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May 22, 2022 | RCV000625072.5 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 31, 2018 | RCV000762845.3 | |
Pathogenic/Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Feb 23, 2023 | RCV001190183.6 |
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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Likely pathogenic
(Jan 03, 2023)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV004239371.1
First in ClinVar: Feb 04, 2024 Last updated: Feb 04, 2024 |
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Pathogenic
(Oct 27, 2021)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000203979.7
First in ClinVar: Jan 31, 2015 Last updated: Apr 20, 2024 |
Comment:
The c.3190+5G>A variant in MYBPC3 has been identified in at least 15 individuals with hypertrophic cardiomyopathy (HCM) and segregated with disease in 8 affected relatives … (more)
The c.3190+5G>A variant in MYBPC3 has been identified in at least 15 individuals with hypertrophic cardiomyopathy (HCM) and segregated with disease in 8 affected relatives from 3 families (Rodríguez-García 2010 PMID: 20433692, Crehalet 2012, Zou 2013 PMID: 23283745, Lopes 2015 PMID: 25351510, Singer 2019 PMID: 30645170, Jaaskelainen 2019 PMID: 30775854, ClinVar SCV000188790.4, LMM data). This variant has also been reported by other clinical laboratories in ClinVar (Variation ID# 155808) and has also been identified in 0.002% (2/112442) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). The c.3190+5G>A variant is located in the 5' splice region. Computational tools predict an impact on splicing and in vitro functional studies involving cell-based minigene assays have shown that this variant caused exon 29 skipping, resulting in a truncated protein (Crehalet 2012, Ito 2017 PMID: 28679633). However, studies using patient RNA from fresh blood were unable to corroborate these findings (Singer 2019 PMID: 30645170). In summary, this variant meets criteria to be classified as pathogenic for autosomal dominant HCM. ACMG/AMP Criteria applied: PP1_Strong, PS4_Strong, PM2_Supporting, PP3. (less)
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Pathogenic
(Dec 01, 2015)
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criteria provided, single submitter
Method: clinical testing
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Primary familial hypertrophic cardiomyopathy
Affected status: yes
Allele origin:
germline
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Blueprint Genetics
Accession: SCV000188790.4
First in ClinVar: Sep 07, 2014 Last updated: Sep 22, 2018 |
Number of individuals with the variant: 4
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Pathogenic
(Jan 01, 2017)
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criteria provided, single submitter
Method: clinical testing
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Asymmetric septal hypertrophy
Dyspnea Heart block Hypertrophic cardiomyopathy Noncompaction cardiomyopathy Tachycardia Premature ventricular contraction
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV000747334.1
First in ClinVar: May 12, 2018 Last updated: May 12, 2018 |
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Pathogenic
(Jul 28, 2017)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy 4
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743676.1 First in ClinVar: Apr 20, 2018 Last updated: Apr 20, 2018 |
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Pathogenic
(Oct 31, 2018)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy 4
Left ventricular noncompaction 10
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000893205.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
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Likely pathogenic
(Jul 02, 2020)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy 4
Affected status: yes
Allele origin:
germline
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Clinical Genetics Laboratory, Region Ostergotland
Accession: SCV002056146.1
First in ClinVar: Jan 15, 2022 Last updated: Jan 15, 2022 |
Comment:
PS4, PP3, PP5
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Pathogenic
(May 22, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy 4
Affected status: yes
Allele origin:
germline
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3billion
Accession: SCV002521327.1
First in ClinVar: Jun 03, 2022 Last updated: Jun 03, 2022 |
Comment:
The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.002%). Intron variant: previously reported to alter splicing … (more)
The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.002%). Intron variant: previously reported to alter splicing and result in a loss of normal protein fucnction through nonsense-mediated decay (NMD) or protein truncation (. https://doi.org/10.4081/cardiogenetics.2012.e6. . . Predicted Consequence/Location:). The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000155808 / 3billion dataset). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Left ventricular hypertrophy (present)
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Pathogenic
(Jan 11, 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: SCV000208157.14
First in ClinVar: Feb 24, 2015 Last updated: Mar 04, 2023 |
Comment:
Not observed at a significant frequency in large population cohorts (gnomAD); Functional studies demonstrated that c.3190+5 G>A results in skipping of exon 29, which would … (more)
Not observed at a significant frequency in large population cohorts (gnomAD); Functional studies demonstrated that c.3190+5 G>A results in skipping of exon 29, which would encode a truncated protein or result in absent protein via nonsense-mediated decay (Crehalet et al., 2012); Intronic +5 splice site variant in a gene for which loss-of-function is a known mechanism of disease, and splice predictors support a deleterious effect; This variant is associated with the following publications: (PMID: 23283745, 2943217, 31028938, 30847666, 33190526, 20800588, 25351510, 19574547, 30645170, 31006259, 30775854, 33673806, 20433692, 28679633) (less)
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Pathogenic
(Dec 11, 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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Revvity Omics, Revvity
Accession: SCV002017653.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Dec 23, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000284240.11
First in ClinVar: Jul 01, 2016 Last updated: Feb 14, 2024 |
Comment:
This sequence change falls in intron 29 of the MYBPC3 gene. It does not directly change the encoded amino acid sequence of the MYBPC3 protein. … (more)
This sequence change falls in intron 29 of the MYBPC3 gene. It does not directly change the encoded amino acid sequence of the MYBPC3 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs587782958, gnomAD 0.007%). This variant has been observed in individuals with clinical features of hypertrophic cardiomyopathy (PMID: 20433692, 20800588, 30645170, 30775854). ClinVar contains an entry for this variant (Variation ID: 155808). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant alters mRNA splicing and is expected to lead to the loss of protein expression (http://dx.doi.org/10.4081/cardiogenetics.2012.e6). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Feb 29, 2024)
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criteria provided, single submitter
Method: clinical testing
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Primary familial hypertrophic cardiomyopathy
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000919809.2
First in ClinVar: Jun 02, 2019 Last updated: Apr 15, 2024 |
Comment:
Variant summary: MYBPC3 c.3190+5G>A alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly … (more)
Variant summary: MYBPC3 c.3190+5G>A alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Computational tools predict a significant impact on normal splicing: Two predict the variant abolishes a canonical 5' splicing donor site. One predicts the variant weakens this site. At least one publication reports experimental evidence that this variant affects mRNA splicing, leading to exon 29 skipping (Crehalet_2012). The variant allele was found at a frequency of 1.7e-05 in 238780 control chromosomes (gnomAD). c.3190+5G>A has been reported in the literature in individuals affected with Hypertrophic Cardiomyopathy (Crehalet_2012, Rodrguez-Garca_2010, Zou_2013). These data indicate that the variant is likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 20433692, 23283745). ClinVar contains an entry for this variant (Variation ID: 155808). Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Jan 08, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004831408.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Comment:
This variant (also known as IVS29+5G>A) causes a G to A nucleotide substitution at the +5 position of intron 29 of the MYBPC3 gene. Splice … (more)
This variant (also known as IVS29+5G>A) causes a G to A nucleotide substitution at the +5 position of intron 29 of the MYBPC3 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. Functional RNA studies have reported conflicting results: In a minigene assay, this variant has been shown to alter mRNA splicing by causing exon 29 skipping, which is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay (PMID: 28679633; Crehalet et al., 2012, https://doi.org/10.4081/cardiogenetics.2012.e6). Another study using the RNA sample derived from a carrier individual's peripheral blood cells has shown no abnormal splicing (PMID: 30645170), however, authors did not comment on the possibility of RNA degradation in their assay. This variant has been reported in more than 20 unrelated individuals affected with hypertrophic cardiomyopathy from various populations (PMID: 20433692, 20800588, 23283745, 25351510, 28138913, 28615295, 28679633, 30775854, 31028938, Crehalet et al., 2012, Burns, 2019). It has been shown that this variant segregates with disease in multiple individuals across 4 families (PMID: 20433692, 30645170; communication with an external laboratory; ClinVar SCV000203979.6). This variant has been identified in 4/238780 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of MYBPC3 function is a known mechanism of disease. Based on the available evidence, this variant is classified as Pathogenic. (less)
Number of individuals with the variant: 5
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Pathogenic
(Mar 03, 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: SCV000735650.5
First in ClinVar: Apr 14, 2018 Last updated: May 01, 2024 |
Comment:
The c.3190+5G>A intronic pathogenic mutation results from a G to A substitution 5 nucleotides after coding exon 29 in the MYBPC3 gene. This alteration has … (more)
The c.3190+5G>A intronic pathogenic mutation results from a G to A substitution 5 nucleotides after coding exon 29 in the MYBPC3 gene. This alteration has been reported in unrelated individuals with hypertrophic cardiomyopathy and, in one study, was identified in a proband, the proband's affected daughter, and the proband's unaffected daughter (Millat G et al Clin Chim Acta. 2010 Dec; 411(23-24):1983-91; Rodríguez-García MI et al. BMC Med Genet. 2010; 11():67; Zou Y et al. Mol Biol Rep. 2013 Jun; 40(6):3969-76). In silico splice site analysis predicts that this alteration will weaken the native splice donor site. By in vitro studies, this alteration was revealed to cause exon 29 skipping, which is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay (Crehalet H et al. Cardiogenetics. 2012 May; 2:e6; Ito K et al. Proc. Natl. Acad. Sci. U.S.A., 2017 07;114:7689-7694). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(Feb 23, 2023)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV001357619.3
First in ClinVar: Jun 22, 2020 Last updated: Feb 14, 2024 |
Comment:
This variant (also known as IVS29+5G>A) causes a G to A nucleotide substitution at the +5 position of intron 29 of the MYBPC3 gene. Splice … (more)
This variant (also known as IVS29+5G>A) causes a G to A nucleotide substitution at the +5 position of intron 29 of the MYBPC3 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. Functional RNA studies have reported conflicting results: In a minigene assay, this variant has been shown to alter mRNA splicing by causing exon 29 skipping, which is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay (PMID: 28679633; Crehalet et al., 2012, https://doi.org/10.4081/cardiogenetics.2012.e6). Another study using the RNA sample derived from a carrier individual's peripheral blood cells has shown no abnormal splicing (PMID: 30645170), however, authors did not comment on the possibility of RNA degradation in their assay. This variant has been reported in more than 20 unrelated individuals affected with hypertrophic cardiomyopathy from various populations (PMID: 20433692, 20800588, 23283745, 25351510, 28138913, 28615295, 28679633, 30775854, 31028938, Crehalet et al., 2012, Burns, 2019). It has been shown that this variant segregates with disease in multiple individuals across 4 families (PMID: 20433692, 30645170; communication with an external laboratory; ClinVar SCV000203979.6). This variant has been identified in 4/238780 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of MYBPC3 function is a known mechanism of disease. Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(Jan 01, 2018)
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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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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001249477.21
First in ClinVar: May 12, 2020 Last updated: May 12, 2024 |
Number of individuals with the variant: 1
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Likely pathogenic
(Feb 17, 2012)
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no assertion criteria provided
Method: clinical testing
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Not provided
Affected status: not provided
Allele origin:
germline
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Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000280257.1
First in ClinVar: May 29, 2016 Last updated: May 29, 2016 |
Comment:
Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case … (more)
Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. MYBPC3 IVS29+5 G>A Given the type of variant, the case data, the in vitro data, and the absence in general population samples we consider this variant likely disease causing. The variant has been seen in at least 10 unrelated cases of HCM. There is weak segregation data from two families. Rodriguez-Garcia et al (2010) reported the variant in one of 20 individuals from their Spanish cohort. It segregated with disease in two affected first degree relatives. In an abstract from the 2005 HUGO meeting, an Australian group reported that they observed the variant in an individual with HCM in a cohort of 150 individuals that had DHLPC-based analysis of MYH7 and MYBPC3 (Yu et al 2005). Ancestry was not reported. Crehalet et al (2012) observed the variant in a patient with HCM from their French cohort of 280 HCM patients. Rodriguez-Garcia et al (2010) note that bionformatics analysis predicted an impact on splicing (programs used were reported as SSF, ASSP, NetGene2, HSF). The nucleotide at the +5 position of the consensus splice junction sequence. Crehalet et al (2012) note that 3 of 5 splicing algorithms they used predicted aberrant splicing. They assessed impact on splicing using a mini-gene assay and found that exon 29 was completely skipped and the resulting transcript include a premature stop codon and would likely be subject to nonsense-mediated decay. Splicing and other protein-truncating variants in MYBPC3 are a frequent cause of HCM (Erdmann et al. 2001 & 2003; Stenson et al 2003; Harvard Sarcomere Protein Gene Mutation Database). Many MYBPC3 splice variants have been reported in association with HCM including IVS2-1G>A, IVS6-2A>C IVS7+1G>A, IVS8+1G>A, IVS12-2A>G, IVS14-2A>G, IVS16-1G>A, IVS22+1G>A, IVS24+1G>A, IVS28+1G>A, IVS32+1G>A, and IVS33+1G>A (Harvard Sarcomere Protein Gene Mutation Database). Furthermore, these types of variants in MYBPC3 are not seen in individuals without cardiomyopathy (Pan et al 2012). In total the variant has not been seen in ~6700 published controls and individuals from publicly available population datasets. The variant is not listed in the NHLBI Exome Sequencing Project dataset, which currently includes variant calls on ~6500 Caucasian and African American individuals (as of June 5th, 2014). There are no variants at the splice donor site in intron 29 listed in that dataset. It is listed in the 1000 genomes browser, but this appears to point to the HGMD listing and an online database that appears to be connected to Yu et al. The variant was not observed in the following published control samples: 200 controls (Rodriguez-Garcia et al 2010). (less)
Number of individuals with the variant: 11
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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: SCV001923440.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
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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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Adopting High-Resolution Allele Frequencies Substantially Expedites Variant Interpretation in Genetic Diagnostic Laboratories. | Ghani M | The Journal of molecular diagnostics : JMD | 2019 | PMID: 31028938 |
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy. | Jääskeläinen P | ESC heart failure | 2019 | PMID: 30775854 |
Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy. | Singer ES | Circulation. Genomic and precision medicine | 2019 | PMID: 30645170 |
Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. | Ito K | Proceedings of the National Academy of Sciences of the United States of America | 2017 | PMID: 28679633 |
Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy. | Ross SB | Circulation. Cardiovascular genetics | 2017 | PMID: 28615295 |
Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data. | Alejandra Restrepo-Cordoba M | Journal of cardiovascular translational research | 2017 | PMID: 28138913 |
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. | Lopes LR | Heart (British Cardiac Society) | 2015 | PMID: 25351510 |
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. | Zou Y | Molecular biology reports | 2013 | PMID: 23283745 |
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy. | Millat G | Clinica chimica acta; international journal of clinical chemistry | 2010 | PMID: 20800588 |
Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy. | Rodríguez-García MI | BMC medical genetics | 2010 | PMID: 20433692 |
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 |
Statistical features of human exons and their flanking regions. | Zhang MQ | Human molecular genetics | 1998 | PMID: 9536098 |
Splicing of messenger RNA precursors. | Padgett RA | Annual review of biochemistry | 1986 | PMID: 2943217 |
99mTc-pyrophosphate imaging in acute pericarditis: a clinical and experimental study. | Fleg JL | Radiology | 1978 | PMID: 203979 |
http://dx.doi.org/10.4081/ardiogenetis.2012.e6 | - | - | - | - |
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Text-mined citations for rs587782958 ...
HelpRecord last updated May 12, 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.