ClinVar Genomic variation as it relates to human health
NM_000256.3(MYBPC3):c.927-9G>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.927-9G>A
Variation ID: 42807 Accession: VCV000042807.36
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p11.2 11: 47346379 (GRCh38) [ NCBI UCSC ] 11: 47367930 (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 Apr 15, 2024 Jan 31, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000256.3:c.927-9G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
intron variant NC_000011.10:g.47346379C>T NC_000011.9:g.47367930C>T NG_007667.1:g.11324G>A LRG_386:g.11324G>A LRG_386t1:c.927-9G>A - Protein change
- Other names
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- Canonical SPDI
- NC_000011.10:47346378: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.
The Genome Aggregation Database (gnomAD) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 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
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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 |
3679 | 3696 |
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 (4) |
criteria provided, multiple submitters, no conflicts
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Nov 1, 2023 | RCV000158321.14 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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May 3, 2021 | RCV000208378.5 | |
Pathogenic (1) |
criteria provided, single submitter
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May 18, 2017 | RCV000515159.2 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Jan 31, 2024 | RCV000473914.18 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Dec 3, 2020 | RCV000709744.3 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Jun 7, 2023 | RCV001170203.10 |
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
(Dec 07, 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: SCV000264050.2
First in ClinVar: Feb 27, 2016 Last updated: Sep 22, 2018 |
Number of individuals with the variant: 4
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Pathogenic
(May 18, 2017)
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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: SCV000611212.1
First in ClinVar: Nov 11, 2017 Last updated: Nov 11, 2017 |
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Pathogenic
(Aug 21, 2017)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy 4
Affected status: unknown
Allele origin:
germline
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Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
Accession: SCV000840018.1
First in ClinVar: Oct 14, 2018 Last updated: Oct 14, 2018 |
Comment:
A heterozygous c.927-9G>A pathogenic variant in the MYBPC3 gene was detected in this individual. This variant has been previously as disease-causing (PMID: 21488308, 24113344, 23549607; … (more)
A heterozygous c.927-9G>A pathogenic variant in the MYBPC3 gene was detected in this individual. This variant has been previously as disease-causing (PMID: 21488308, 24113344, 23549607; 26914223). Studies characterizing the effect of the c.927-9G>A variant on MYBPC3 function have shown splicing at exon 11 is absent and protein levels are reduced (PMID: 25031304). Therefore, this variant is classified as a pathogenic variant in accordance with ACMG guidelines. (less)
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Pathogenic
(Jan 01, 2019)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy 4
Affected status: yes
Allele origin:
unknown
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Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001440502.1
First in ClinVar: Oct 31, 2020 Last updated: Oct 31, 2020 |
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Pathogenic
(Dec 03, 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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Centogene AG - the Rare Disease Company
Accession: SCV002059661.1
First in ClinVar: Jan 15, 2022 Last updated: Jan 15, 2022 |
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Pathogenic
(Nov 01, 2023)
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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: SCV004184148.3
First in ClinVar: Dec 24, 2023 Last updated: Apr 15, 2024 |
Comment:
MYBPC3: PP1:Strong, PM2, PS3:Moderate, PS4:Moderate
Number of individuals with the variant: 3
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Pathogenic
(Oct 23, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001448085.1
First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020 |
Clinical Features:
Hypertrophic cardiomyopathy (present) , Dyspnea (present)
Sex: male
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Pathogenic
(May 03, 2021)
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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: SCV000696335.2
First in ClinVar: Mar 17, 2018 Last updated: May 21, 2021 |
Comment:
Variant summary: MYBPC3 c.927-9G>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly … (more)
Variant summary: MYBPC3 c.927-9G>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing, however at least one publication reports experimental evidence that this variant affects mRNA splicing, resulting in skipping of exon 12 (e.g. Crehalet_2012). The variant allele was found at a frequency of 5.4e-06 in 186306 control chromosomes. c.927-9G>A has been reported in the literature in multiple individuals affected with Hypertrophic Cardiomyopathy (e.g. Rodriguez-Garcia_2010, Crehalet_2012, Das_2014), and co-segregated with disease in multiple families (Rodriguez-Garcia_2010, Das_2014). These data indicate that the variant is very likely to be associated with disease. 11 other ClinVar submitters (evaluation after 2014) have cited the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Nov 17, 2020)
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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: SCV000059334.7
First in ClinVar: May 03, 2013 Last updated: May 29, 2021 |
Comment:
The c.927-9G>A variant in MYBPC3 has been reported in >20 individuals with hypertrophic cardiomyopathy (HCM) and segregated with disease in at least 8 affected individuals … (more)
The c.927-9G>A variant in MYBPC3 has been reported in >20 individuals with hypertrophic cardiomyopathy (HCM) and segregated with disease in at least 8 affected individuals from 7 families (Rodriguez-Garcia 2010 PMID: 21488307, Rodriguez-Garcia 2010 PMID: 20433692, Crehalet 2012, Das 2014 PMID: 24113344, Murphy 2016 PMID: 26914223, Viswanathan 2017 PMID: 29121657, Marschall 2019 PMID: 31737537, O'Leary 2019 PMID: 30550750, LMM data). It has also been reported as Pathogenic by multiple clinical laboratories in ClinVar (Variation ID 42807) and has been identified in 1/95618 European chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant occurs in the conserved splice consensus sequence and in vitro splicing studies suggest that it disrupts splicing, leading to an abnormal or absent protein (Crehalet 2012, Helms 2014 PMID: 25031304). In summary, the c.927-9G>A variant meets criteria to be classified as pathogenic for autosomal dominant HCM. ACMG/AMP criteria applied: PS4, PP1_Strong, PS3_Moderate. (less)
Number of individuals with the variant: 58
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Pathogenic
(Feb 02, 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: SCV000208256.16
First in ClinVar: Feb 24, 2015 Last updated: Mar 04, 2023 |
Comment:
Not observed at a significant frequency in large population cohorts (gnomAD); Published functional studies demonstrated that c.927-9 G>A leads to skipping of exon 12 and … (more)
Not observed at a significant frequency in large population cohorts (gnomAD); Published functional studies demonstrated that c.927-9 G>A leads to skipping of exon 12 and results in either an abnormal truncated protein or haploinsufficiency due to the creation of an unstable transcript (Helms et al., 2014; Crehalet et al., 2012); Reported in ClinVar as a pathogenic variant (ClinVar Variant ID# 42807); This variant is associated with the following publications: (PMID: 21488308, 31737537, 25217454, 27834932, 21415409, 31028938, 25031304, 24113344, 23549607, 24810389, 20433692, 27688314, 26914223, 28916354, 28790153, 29121657, 30645170, 31006259, 33673806, 31589614, 30550750, 32746448, 28679633, 31447099, 34135346) (less)
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Pathogenic
(Jun 07, 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: SCV001332755.4
First in ClinVar: May 31, 2020 Last updated: Feb 04, 2024 |
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Pathogenic
(Jan 25, 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: SCV001358526.4
First in ClinVar: Jun 22, 2020 Last updated: Feb 14, 2024 |
Comment:
This variant is located in intron 11 of the MYBPC3 gene (also known as IVS11-9G>A in literature). A mini-gene splicing assay has shown that the … (more)
This variant is located in intron 11 of the MYBPC3 gene (also known as IVS11-9G>A in literature). A mini-gene splicing assay has shown that the wild type construct results in approximately equal amounts of the normal transcript and the short transcript lacking exon 12, suggesting that the weak acceptor site of intron 11 was not always recognized (Crehalet 2012, doi.org/10.4081/cardiogenetics.2012.e6). This study has also shown that this variant causes complete skipping of exon 12, which is expected to result in frameshift and premature translation stop. In a study using ventricular myocardial tissue from an individual affected with hypertrophic cardiomyopathy, this variant has been shown to cause inclusion of intron 11 and premature truncation in ~40% of the transcripts (PMID: 25031304). A recent study using RNA samples from two affected carriers did not detect aberrant splicing, although the possibility of RNA degradation cannot be ruled out (PMID: 30645170). This variant has been reported in over 20 individuals affected with hypertrophic cardiomyopathy (PMID: 20433692, 23549607, 24113344, 26914223, 28408708, 28615295, 28790153, 29030401, 33658374, 35508642). This variant has also been reported to segregate with hypertrophic cardiomyopathy in multiple families (PMID: 20433692, 24113344; communication with external laboratory, ClinVar SCV000059334.6). This variant has been identified in 2/217270 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(Jan 31, 2024)
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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: SCV000546426.11
First in ClinVar: Apr 17, 2017 Last updated: Feb 20, 2024 |
Comment:
This sequence change falls in intron 11 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 11 of the MYBPC3 gene. It does not directly change the encoded amino acid sequence of the MYBPC3 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has been observed in individuals with hypertrophic cardiomyopathy (PMID: 23549607, 24113344, 24810389, 26914223, 28615295, 29030401, 29121657). It has also been observed to segregate with disease in related individuals. This variant is also known as IVS11-9G>A. ClinVar contains an entry for this variant (Variation ID: 42807). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in inclusion of intron 11 and introduces a premature termination codon (PMID: 25031304). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic. (less)
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Likely pathogenic
(Apr 05, 2013)
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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: SCV000280287.1
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 IVS11-9G>A This variant has been seen in at least 30 presumably unrelated cases of HCM (4 published, >26 unpublished). Four of >30 patients who had another variant: -One patient with p.Arg502Trp in MYBPC3 (pathogenic), with a severe phenotype and segregation consistent with two pathogenic variants. -One patient with p.Arg278Cys (c.832C>T) in TNNT2 (ClinVar: VUS by LMM, Blueprint, CHEO, Semsarian’s group; pathogenic by GeneDx), with severe phenotype, no segregation data. -One patient with p.Asn47Lys (c.141C>A) in MYL2 (ClinVar: VUS by LMM, Blueprint; pathogenic by GeneDx), diagnosed 56yo with LVWT 24 mm. -One patient with c.2864del in MYBPC3 (not in ClinVar, not published, ERA classifies as pathogenic), diagnosed 54yo with LVWT 21 mm. There is moderate segregation data. In 5 families an additional affected relative carried this variant. In total, the variant has not been seen in at least 6326 and as many as 64,326 individuals from presumably unrelated published and database controls. Both in silico and in vitro data suggest that this variant causes aberrant splicing (Crehalet, 2012). Published cases: Rodriguez-Garcia (2010) reported this variant in 2 patients diagnosed with HCM cared for in Complejo Hospitalario Universitario A Coruña, Spain, who underwent analysis of 537 genetic variants of HCM disease genes - TNNT2, TNNI3, TPM1, MYL2, MYL3, ACTC, TTN, MYH6, MYLK2, MYO6, and TCAP. No phenotype information is provided for the two patients. Authors report 1 affected male has an affected daughter with this variant. Crehalet (2012) reported this variant in 2 patients diagnosed with HCM cared for in Bron, Lyon, and Nantes (France) who underwent sequencing analysis of MYBPC3, MYH7, TNNT2, and TNNI3 genes. One of the patients was 12-year old boy with HCM and the other was a 30-year old man with HCM and atrial fibrillation. Gruner (2014) reported this variant in one “G+/P-“ patient cared for at the Tufts Medical Center or the Toronto General Hospital. The patient is a 27-year-old woman with a normal maximum left ventricular thickness of 11 mm and no LVOT obstruction was present. Her family history was not reported. This variant is located in flanking intronic regions of intron 11. According to Crehalet et al (2012), the weak acceptor splice site of intron 11 was detected by Human Splicing Finder (HSF) which predicted the creation of a new acceptor site at position c.927-9, which is stronger than the wild type. In addition, HeLa cells transfected with the wild type sequence showed two different transcripts: a 410 bp normal product containing exon 12 and the 248 bp product corresponding to exon 12 skipping, as for the wild type minigene c.1090G, confirming that the weak acceptor site of intron 11 is not always recognized in HeLa cells. Furthermore, mutant minigene assay showed complete exon 12 skipping and the transcript lacking exon 12 would encode a truncated protein. Additional MYBPC3 splice variants reported in association with HCM include: 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. The base is conserved across mammals with the exception of Cape golden mole (T). In total the variant has not been seen in at least 6326 and as many as 64,326 individuals from published controls and publicly available datasets that approximate the general population. The variant is absent in European American and African American populations by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS), which includes data on ~6,000 individuals of European or African American backgrounds. It is also not listed in the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/), which currently includes variant calls on ~64,000 individuals of European, African, Latino and Asian descent (as of April 22nd, 2015). We think that this dataset goes sufficiently far into introns to provide data on this variant, but we are awaiting confirmation of that from the ExAC group. This variant is currently listed in dbSNP: rs397516083. The variant was not observed in the following published control samples: Gruner, 2014 in 126 control individuals and Rodriguez-Garcia, 2010 in 200 control individuals. (less)
Number of individuals with the variant: 30
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Pathogenic
(May 19, 2016)
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no assertion criteria provided
Method: clinical testing
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Hypertrophic cardiomyopathy
Affected status: yes
Allele origin:
germline
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Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
Accession: SCV000804885.1
First in ClinVar: Sep 13, 2018 Last updated: Sep 13, 2018 |
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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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Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree. | Torrado M | Scientific reports | 2022 | PMID: 35508642 |
Discordant clinical features of identical hypertrophic cardiomyopathy twins. | Repetti GG | Proceedings of the National Academy of Sciences of the United States of America | 2021 | PMID: 33658374 |
Variant panorama in 1,385 index patients and sensitivity of expanded next-generation sequencing panels in arrhythmogenic disorders. | Marschall C | Cardiovascular diagnosis and therapy | 2019 | PMID: 31737537 |
Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy. | Singer ES | Circulation. Genomic and precision medicine | 2019 | PMID: 30645170 |
MYBPC3 truncation mutations enhance actomyosin contractile mechanics in human hypertrophic cardiomyopathy. | O'Leary TS | Journal of molecular and cellular cardiology | 2019 | PMID: 30550750 |
Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage. | Viswanathan SK | PloS one | 2017 | PMID: 29121657 |
A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients. | Cirino AL | Circulation. Cardiovascular genetics | 2017 | PMID: 29030401 |
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. | Burns C | Circulation. Cardiovascular genetics | 2017 | PMID: 28790153 |
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 |
Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications. | Ingles J | Circulation. Cardiovascular genetics | 2017 | PMID: 28408708 |
Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies. | Frisso G | International journal of molecular sciences | 2016 | PMID: 27834932 |
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. | Murphy SL | Journal of cardiovascular translational research | 2016 | PMID: 26914223 |
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. | Helms AS | Circulation. Cardiovascular genetics | 2014 | PMID: 25031304 |
Significance of left ventricular apical-basal muscle bundle identified by cardiovascular magnetic resonance imaging in patients with hypertrophic cardiomyopathy. | Gruner C | European heart journal | 2014 | PMID: 24810389 |
Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment. | Das K J | Genetics in medicine : official journal of the American College of Medical Genetics | 2014 | PMID: 24113344 |
T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy. | Ho CY | Circulation. Cardiovascular imaging | 2013 | PMID: 23549607 |
In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament. | Harris SP | Circulation research | 2011 | PMID: 21415409 |
Novel human pathological mutations. Gene symbol: MYBPC3. Disease: cardiomyopathy, hypertrophic. | Rodriguez-Garcia MI | Human genetics | 2010 | PMID: 21488307 |
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 |
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Text-mined citations for rs397516083 ...
HelpRecord last updated Apr 15, 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.