NM_000256.3(MYBPC3):c.1103_1107dup (p.Glu370fs) AND Cardiovascular phenotype

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 30, 2016
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:: RCV000619020.3

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1103_1107dup (p.Glu370fs)]

NM_000256.3(MYBPC3):c.1103_1107dup (p.Glu370fs)

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.1103_1107dup (p.Glu370fs)

HGVS:

NC_000011.10:g.47343608_47343612dup
NG_007667.1:g.14091_14095dup
NM_000256.3:c.1103_1107dupMANE SELECT
NP_000247.2:p.Glu370fs
LRG_386t1:c.1103_1107dup
LRG_386:g.14091_14095dup
LRG_386p1:p.Glu370fs
NC_000011.9:g.47365159_47365163dup
NM_000256.3:c.1103_1107dupAGCTGMANE SELECT

Protein change:

E370fs

Links:

dbSNP: rs1555122462

NCBI 1000 Genomes Browser:

rs1555122462

Molecular consequence:

NM_000256.3:c.1103_1107dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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
SCV000740047	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Dec 30, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000740047

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Dec 30, 2016)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000740047.5

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

Description

The c.1103_1107dupAGCTG pathogenic mutation, located in coding exon 13 of the MYBPC3 gene, results from a duplication of AGCTG at nucleotide position 1103, causing a translational frameshift with a predicted alternate stop codon (p.E370Sfs*8). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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: May 1, 2024

ClinVar

Relating variation to medicine