NM_000256.3(MYBPC3):c.3624dup (p.Lys1209fs) AND Hypertrophic cardiomyopathy 4

Germline classification:: Likely 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:: RCV000035601.7

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3624dup (p.Lys1209fs)]

NM_000256.3(MYBPC3):c.3624dup (p.Lys1209fs)

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.3624dup (p.Lys1209fs)

Other names:

p.Lys1209GlnfsX33

HGVS:

NC_000011.10:g.47332572dup
NG_007667.1:g.25134dup
NM_000256.3:c.3624dupMANE SELECT
NP_000247.2:p.Lys1209fs
LRG_386t1:c.3624dup
LRG_386:g.25134dup
LRG_386p1:p.Lys1209fs
NC_000011.9:g.47354123dup
NM_000256.3:c.3624dupCMANE SELECT
c.3624_3625insC

Protein change:

K1209fs

Links:

dbSNP: rs397516029

NCBI 1000 Genomes Browser:

rs397516029

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000256174	Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe)	criteria provided, single submitter (LGCM Criteria August 2015)	Likely pathogenic	germline	clinical testing	LGCM_Criteria_August_2015 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000256174

Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe)

criteria provided, single submitter

(LGCM Criteria August 2015)

Likely pathogenic

germline

clinical testing

LGCM_Criteria_August_2015

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe), SCV000256174.1

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

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

Last Updated: Feb 20, 2024

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