NM_000256.3(MYBPC3):c.2778_2781dup (p.Ser928fs) AND Hypertrophic cardiomyopathy 4

Germline classification:: Pathogenic (1 submission)
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003476887.2

Allele description [Variation Report for NM_000256.3(MYBPC3):c.2778_2781dup (p.Ser928fs)]

NM_000256.3(MYBPC3):c.2778_2781dup (p.Ser928fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

11p11.2

Genomic location:

Preferred name:

NM_000256.3(MYBPC3):c.2778_2781dup (p.Ser928fs)

Other names:

NM_000256.3:c.2781_2782insCACA

HGVS:

NC_000011.10:g.47335166TG[5]
NG_007667.1:g.22532CA[5]
NM_000256.3:c.2778_2781dupMANE SELECT
NP_000247.2:p.Ser928fs
LRG_386t1:c.2778_2781dup
LRG_386:g.22532CA[5]
LRG_386p1:p.Ser928fs
NC_000011.9:g.47356717TG[5]
NC_000011.9:g.47356722_47356723insTGTG

Protein change:

S928fs

Molecular consequence:

NM_000256.3:c.2778_2781dup - frameshift variant - [Sequence Ontology: SO:0001589]

Functional consequence:

mutation affecting reading frame [Sequence Ontology: SO:1000064]

Observations:

Condition(s)

Name:: Hypertrophic cardiomyopathy 4
Synonyms:: Familial hypertrophic cardiomyopathy 4
Identifiers:: MONDO: MONDO:0007268; MedGen: C1861862; OMIM: 115197

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003935995	Laboratory of Functional Genomics of Cardiovascular Diseases, Federal State Budgetary Institution National Medical Research Centre of Cardiology Named after Academician E.i.chazov. of the Ministry of Health of the Russian Federation	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	unknown, paternal, not applicable	clinical testing, research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003935995

Laboratory of Functional Genomics of Cardiovascular Diseases, Federal State Budgetary Institution National Medical Research Centre of Cardiology Named after Academician E.i.chazov. of the Ministry of Health of the Russian Federation

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

unknown, paternal, not applicable

clinical testing, research

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	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	research
not provided	paternal	unknown	2	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	yes	2	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	no	1	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 Laboratory of Functional Genomics of Cardiovascular Diseases, Federal State Budgetary Institution National Medical Research Centre of Cardiology Named after Academician E.i.chazov. of the Ministry of Health of the Russian Federation, SCV003935995.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	clinical testing	PubMed (1)
2		1	not provided	not provided	clinical testing	PubMed (1)
3		1	not provided	not provided	clinical testing	PubMed (1)
4		1	not provided	not provided	clinical testing	PubMed (1)
5		1	not provided	not provided	clinical testing	PubMed (1)
6	not provided	not provided	not provided	not provided	research	PubMed (1)

Description

Apparently, there was a paternal inheritance of disease, since the father of the proband died suddenly at the age of 43 and the proband's mother has no signs of hypertrophic cardiomyopathy.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
2	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	unknown	no	not provided	not provided	not provided		1	not provided	not provided	not provided
4	paternal	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided
5	paternal	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided
6	not applicable	not applicable	not provided	myocardium	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

ClinVar

Relating variation to medicine