NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu) AND Hypertrophic cardiomyopathy

Germline classification:: Benign (3 submissions)
Last evaluated:: Feb 5, 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:: RCV001086874.20

Allele description [Variation Report for NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu)]

NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu)

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.833G>A (p.Gly278Glu)

Other names:

p.G278E:GGA>GAA

HGVS:

NC_000011.10:g.47347669C>T
NG_007667.1:g.10034G>A
NM_000256.3:c.833G>AMANE SELECT
NP_000247.2:p.Gly278Glu
NP_000247.2:p.Gly278Glu
LRG_386t1:c.833G>A
LRG_386:g.10034G>A
LRG_386p1:p.Gly278Glu
NC_000011.9:g.47369220C>T
Q14896:p.Gly278Glu
c.833G>A

Protein change:

G278E

Links:

UniProtKB: Q14896#VAR_019891; dbSNP: rs147315081

NCBI 1000 Genomes Browser:

rs147315081

Molecular consequence:

NM_000256.3:c.833G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

224

Condition(s)

Name:: Hypertrophic cardiomyopathy
Synonyms:: HYPERTROPHIC MYOCARDIOPATHY
Identifiers:: MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639

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Homo sapiens wingless-type MMTV integration site family, member 5A (WNT5A), mRNA
Homo sapiens wingless-type MMTV integration site family, member 5A (WNT5A), mRNA
gi|40806204|ref|NM_003392.3|

Nucleotide
Mus musculus bone morphogenetic protein 4 (Bmp4), transcript variant 1, mRNA
Mus musculus bone morphogenetic protein 4 (Bmp4), transcript variant 1, mRNA
gi|939320323|ref|NM_007554.3|

Nucleotide
Mus musculus neural cell adhesion molecule 1 (Ncam1), transcript variant 2, mRNA
Mus musculus neural cell adhesion molecule 1 (Ncam1), transcript variant 2, mRNA
gi|2222724958|ref|NM_010875.4|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000558167	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 31, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003800611	Cohesion Phenomics	no assertion criteria provided (ACMG Guidelines, 2015)	Benign (Oct 10, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004834716	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Feb 5, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000558167

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 31, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV003800611

Cohesion Phenomics

no assertion criteria provided

(ACMG Guidelines, 2015)

Benign
(Oct 10, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004834716

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Feb 5, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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
not provided	germline	unknown	224	not provided	not provided	108544	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Invitae, SCV000558167.9

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

#	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

From Cohesion Phenomics, SCV003800611.2

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

#	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

From All of Us Research Program, National Institutes of Health, SCV004834716.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	224	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	108544	not provided	not provided		224	not provided	not provided	not provided

Last Updated: Sep 8, 2024

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