NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) AND Cardiovascular phenotype

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 3, 2022
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:: RCV000247256.5

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)]

NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)

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.1505G>A (p.Arg502Gln)

Other names:

p.R502Q:CGG>CAG

HGVS:

NC_000011.10:g.47342697C>T
NG_007667.1:g.15006G>A
NM_000256.3:c.1505G>AMANE SELECT
NP_000247.2:p.Arg502Gln
LRG_386t1:c.1505G>A
LRG_386:g.15006G>A
LRG_386p1:p.Arg502Gln
NC_000011.9:g.47364248C>T
Q14896:p.Arg502Gln
c.1505G>A
p.(Arg502Gln)

Protein change:

R502Q

Links:

UniProtKB: Q14896#VAR_027881; dbSNP: rs397515907

NCBI 1000 Genomes Browser:

rs397515907

Molecular consequence:

NM_000256.3:c.1505G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

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RecName: Full=G-protein coupled receptor 182; AltName: Full=G10D; AltName: Full=...
RecName: Full=G-protein coupled receptor 182; AltName: Full=G10D; AltName: Full=NOW
gi|1169785|sp|P43142.1|GP182_MOUSE

Protein
9,000 years of genetic continuity at Oakhurst rockshelter, South Africa
9,000 years of genetic continuity at Oakhurst rockshelter, South Africa
9,000 years of genetic continuity at Oakhurst rockshelter, South Africa

BioProject
PREDICTED: popeye domain-containing protein 3 [Capra hircus]
PREDICTED: popeye domain-containing protein 3 [Capra hircus]
gi|1062882559|ref|XP_017908608.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000318847	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (May 3, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 21310275, 22112859, 22267749, 27532257 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000318847

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(May 3, 2022)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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

Citations

PubMed

Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.

Jordan DM, Kiezun A, Baxter SM, Agarwala V, Green RC, Murray MF, Pugh T, Lebo MS, Rehm HL, Funke BH, Sunyaev SR.

Am J Hum Genet. 2011 Feb 11;88(2):183-92. doi: 10.1016/j.ajhg.2011.01.011.

PubMed [citation]

PMID:: 21310275
PMCID:: PMC3035712

Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy.

Otsuka H, Arimura T, Abe T, Kawai H, Aizawa Y, Kubo T, Kitaoka H, Nakamura H, Nakamura K, Okamoto H, Ichida F, Ayusawa M, Nunoda S, Isobe M, Matsuzaki M, Doi YL, Fukuda K, Sasaoka T, Izumi T, Ashizawa N, Kimura A.

Circ J. 2012;76(2):453-61. Epub 2011 Nov 23.

PubMed [citation]

PMID:: 22112859

See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000318847.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

The p.R502Q pathogenic mutation (also known as c.1505G>A) is located in coding exon 17 of the MYBPC3 gene. This alteration results from a G to A substitution at nucleotide position 1505. The arginine at codon 502 is replaced by glutamine, an amino acid with highly similar properties. This mutation has been reported in numerous individuals with hypertrophic cardiomyopathy (HCM) including several families with strong evidence of segregation with disease (Nimura etal. N Engl J Med. 1998;338:1248-1257; Cardmin N etal. Rev Port Cardiol. 2005;24:1463-147; Rudzinski T etal. Kardiol Pol. 2008;66:821-825; Otsuka H et al. Circ. J. 2012;76(2):453-61; Maurizi N et al. JAMA Cardiol. 2018;3(6):520-525). This alteration has also been reported in an individual with HCM who also had evidence of left ventricular noncompaction (Faria R etal. Rev Port Cardiol. 2012;31:317-319). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the supporting evidence, 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: Oct 13, 2024

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