NM_000256.3(MYBPC3):c.3065G>A (p.Arg1022His) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Sep 26, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002223767.4

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3065G>A (p.Arg1022His)]

NM_000256.3(MYBPC3):c.3065G>A (p.Arg1022His)

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.3065G>A (p.Arg1022His)

HGVS:

NC_000011.10:g.47333682C>T
NG_007667.1:g.24021G>A
NM_000256.3:c.3065G>AMANE SELECT
NP_000247.2:p.Arg1022His
LRG_386t1:c.3065G>A
LRG_386:g.24021G>A
LRG_386p1:p.Arg1022His
NC_000011.9:g.47355233C>T
c.3065G>A

Protein change:

R1022H

Links:

dbSNP: rs397516000

NCBI 1000 Genomes Browser:

rs397516000

Molecular consequence:

NM_000256.3:c.3065G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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DB221004 TRACH3 Homo sapiens cDNA clone TRACH3011555 5', mRNA sequence
DB221004 TRACH3 Homo sapiens cDNA clone TRACH3011555 5', mRNA sequence
gi|83511001|gnl|dbEST|34534818|dbj| 004.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002503394	AiLife Diagnostics, AiLife Diagnostics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 23, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 27532257, 28790153, 25741868
SCV002586896	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Sep 26, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002503394

AiLife Diagnostics, AiLife Diagnostics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 23, 2020)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV002586896

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Sep 26, 2024)

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	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, Exome Aggregation Consortium, MacArthur DG, Farrall M, Cook SA, Watkins H.

Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.

PubMed [citation]

PMID:: 27532257
PMCID:: PMC5116235

Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.

Burns C, Bagnall RD, Lam L, Semsarian C, Ingles J.

Circ Cardiovasc Genet. 2017 Aug;10(4). doi:pii: e001666. 10.1161/CIRCGENETICS.116.001666.

PubMed [citation]

PMID:: 28790153

See all PubMed Citations (3)

Details of each submission

From AiLife Diagnostics, AiLife Diagnostics, SCV002503394.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

#	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

From GeneDx, SCV002586896.3

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

Description

Identified in patients with HCM in published literature (PMID: 27532257, 28408708, 28790153, 32841044, 37652022); 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: 28408708, 33782553, 28790153, 27532257, 32841044, 37652022, 36243179)

#	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 8, 2024

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