NM_000256.3(MYBPC3):c.3683G>C (p.Arg1228Pro) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 23, 2015
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:: RCV000158253.6

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3683G>C (p.Arg1228Pro)]

NM_000256.3(MYBPC3):c.3683G>C (p.Arg1228Pro)

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.3683G>C (p.Arg1228Pro)

Other names:

p.R1228P:CGC>CCC

HGVS:

NC_000011.10:g.47332203C>G
NG_007667.1:g.25500G>C
NM_000256.3:c.3683G>CMANE SELECT
NP_000247.2:p.Arg1228Pro
LRG_386t1:c.3683G>C
LRG_386:g.25500G>C
LRG_386p1:p.Arg1228Pro
NC_000011.9:g.47353754C>G

Protein change:

R1228P

Links:

dbSNP: rs528940575

NCBI 1000 Genomes Browser:

rs528940575

Molecular consequence:

NM_000256.3:c.3683G>C - 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
SCV000271994	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Mar 23, 2015)	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

SCV000271994

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Mar 23, 2015)

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	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000271994.2

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

Description

The p.Arg1228Pro variant in MYBPC3 has not been previously reported in individua ls with cardiomyopathy or in large population studies. Arginine (Arg) at positio n 1228 is conserved in mammals but not in evolutionarily distant species. Additi onal computational prediction tools suggest that this variant may impact the pro tein, though this information is not predictive enough to determine pathogenicit y. In summary, the clinical significance of the p.Arg1228Pro variant is uncertai n.

#	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		1	not provided	1	not provided

Last Updated: Sep 29, 2024

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