NM_000256.3(MYBPC3):c.1224-61_1224-53dup AND Cardiomyopathy

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: May 30, 2023
Review status:: criteria provided, conflicting classifications

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001524886.5

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1224-61_1224-53dup]

NM_000256.3(MYBPC3):c.1224-61_1224-53dup

Gene:

MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

11p11.2

Genomic location:

Preferred name:

NM_000256.3(MYBPC3):c.1224-61_1224-53dup

HGVS:

NC_000011.10:g.47343316_47343324dup
NG_007667.1:g.14380_14388dup
NM_000256.3:c.1224-61_1224-53dupMANE SELECT
LRG_386t1:c.1224-61_1224-53dup
LRG_386:g.14380_14388dup
NC_000011.9:g.47364867_47364875dup
NM_000256.3:c.1224-61_1224-53dup9MANE SELECT

Links:

dbSNP: rs1565628380

NCBI 1000 Genomes Browser:

rs1565628380

Molecular consequence:

NM_000256.3:c.1224-61_1224-53dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Cardiomyopathy (CMYO)
Synonyms:: Cardiomyopathies
Identifiers:: MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

Recent activity

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ruvB-like 2 [Cucumis sativus]
ruvB-like 2 [Cucumis sativus]
gi|449451313|ref|XP_004143406.1|

Protein
formin-like protein 6 [Cucurbita maxima]
formin-like protein 6 [Cucurbita maxima]
gi|1281044297|ref|XP_023006879.1|

Protein
sorting nexin 1 [Cucumis melo]
sorting nexin 1 [Cucumis melo]
gi|659125250|ref|XP_008462589.1|

Protein
sorting nexin 1-like [Cucurbita pepo subsp. pepo]
sorting nexin 1-like [Cucurbita pepo subsp. pepo]
gi|1333174376|ref|XP_023518279.1|

Protein
putative receptor protein kinase ZmPK1 [Cucumis melo]
putative receptor protein kinase ZmPK1 [Cucumis melo]
gi|2316551091|ref|XP_008442504.2|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001734857	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 27, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004239335	CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (May 30, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001734857

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 27, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004239335

CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(May 30, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001734857.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant causes _x0008_a duplication of 9 nucleotides at -61 position in intron 13 of the MYBPC3 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYBPC3-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario, SCV004239335.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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