NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter) AND Hypertrophic cardiomyopathy 4

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 21, 2015
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:: RCV000625352.2

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter)]

NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

Preferred name:

NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter)

Other names:

p.Q1061*:CAG>TAG

HGVS:

NC_000011.10:g.47333566G>A
NG_007667.1:g.24137C>T
NM_000256.3:c.3181C>TMANE SELECT
NP_000247.2:p.Gln1061Ter
LRG_386t1:c.3181C>T
LRG_386:g.24137C>T
LRG_386p1:p.Gln1061Ter
NC_000011.9:g.47355117G>A
c.3181C>T
p.Gln1061X

Protein change:

Q1061*

Links:

dbSNP: rs397516005

NCBI 1000 Genomes Browser:

rs397516005

Molecular consequence:

NM_000256.3:c.3181C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000745032	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus	criteria provided, single submitter (ACGS Guidelines, 2013)	Pathogenic (Sep 21, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000745032

Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

criteria provided, single submitter

(ACGS Guidelines, 2013)

Pathogenic
(Sep 21, 2015)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000745032.1

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

Last Updated: Oct 20, 2024

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