NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 10, 2017
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:: RCV000035525.9

Allele description [Variation Report for NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr)]

NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr)

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.2728C>A (p.Pro910Thr)

Other names:

p.P910T:CCA>ACA

HGVS:

NC_000011.10:g.47335886G>T
NG_007667.1:g.21817C>A
NM_000256.3:c.2728C>AMANE SELECT
NP_000247.2:p.Pro910Thr
LRG_386t1:c.2728C>A
LRG_386:g.21817C>A
LRG_386p1:p.Pro910Thr
NC_000011.9:g.47357437G>T
c.2728C>A

Protein change:

P910T

Links:

dbSNP: rs397515985

NCBI 1000 Genomes Browser:

rs397515985

Molecular consequence:

NM_000256.3:c.2728C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000059175	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Jan 10, 2017)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 18533079, 20215591, 21832025, 22361390, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000059175

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Jan 10, 2017)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	3	3	not provided	not provided	not provided	clinical testing

Citations

PubMed

Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

Olivotto I, Girolami F, Ackerman MJ, Nistri S, Bos JM, Zachara E, Ommen SR, Theis JL, Vaubel RA, Re F, Armentano C, Poggesi C, Torricelli F, Cecchi F.

Mayo Clin Proc. 2008 Jun;83(6):630-8. doi: 10.4065/83.6.630.

PubMed [citation]

PMID:: 18533079

Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.

Hershberger RE, Norton N, Morales A, Li D, Siegfried JD, Gonzalez-Quintana J.

Circ Cardiovasc Genet. 2010 Apr;3(2):155-61. doi: 10.1161/CIRCGENETICS.109.912345. Epub 2010 Mar 9.

PubMed [citation]

PMID:: 20215591
PMCID:: PMC2908892

See all PubMed Citations (5)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000059175.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	PubMed (5)

Description

proposed classification - variant undergoing re-assessment, contact laboratory

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		3	not provided	3	not provided

Last Updated: Apr 20, 2024

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