NM_000256.3(MYBPC3):c.1037G>A (p.Arg346His) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 21, 2023
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:: RCV000766321.5

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1037G>A (p.Arg346His)]

NM_000256.3(MYBPC3):c.1037G>A (p.Arg346His)

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.1037G>A (p.Arg346His)

Other names:

p.R346H:CGC>CAC

HGVS:

NC_000011.10:g.47346260C>T
NG_007667.1:g.11443G>A
NM_000256.3:c.1037G>AMANE SELECT
NP_000247.2:p.Arg346His
LRG_386t1:c.1037G>A
LRG_386:g.11443G>A
LRG_386p1:p.Arg346His
NC_000011.9:g.47367811C>T
c.1037G>A
p.R346H

Protein change:

R346H

Links:

dbSNP: rs397515883

NCBI 1000 Genomes Browser:

rs397515883

Molecular consequence:

NM_000256.3:c.1037G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Goniastrea palauensis isolate S021 28S ribosomal RNA gene, partial sequence
Goniastrea palauensis isolate S021 28S ribosomal RNA gene, partial sequence
gi|323471961|gb|HQ203466.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000208263	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 21, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000208263

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 21, 2023)

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 GeneDx, SCV000208263.14

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

Description

Also reported in a patient with sudden death and HCM diagnosed on autopsy who also harbors additional cardiogenetic variants including a frameshift variant in the MYBPC3 gene in cis (PMID: 30282064); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: Siskind_2022_Preprint, 38002985, 27532257, 30282064)

#	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: Sep 29, 2024

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