NM_000256.3(MYBPC3):c.2552C>T (p.Ala851Val) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 12, 2023
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:: RCV004791325.1

Allele description [Variation Report for NM_000256.3(MYBPC3):c.2552C>T (p.Ala851Val)]

NM_000256.3(MYBPC3):c.2552C>T (p.Ala851Val)

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.2552C>T (p.Ala851Val)

Other names:

p.Ala851Val

HGVS:

NC_000011.10:g.47337441G>A
NG_007667.1:g.20262C>T
NM_000256.3:c.2552C>TMANE SELECT
NP_000247.2:p.Ala851Val
LRG_386t1:c.2552C>T
LRG_386:g.20262C>T
LRG_386p1:p.Ala851Val
NC_000011.9:g.47358992G>A

Protein change:

A851V

Links:

dbSNP: rs774172488

NCBI 1000 Genomes Browser:

rs774172488

Molecular consequence:

NM_000256.3:c.2552C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005412321	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 12, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 16199542, 21839045, 29764897, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005412321

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 12, 2023)

germline

clinical testing

PubMed (4)
[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	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.

Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C.

J Med Genet. 2005 Oct;42(10):e59.

PubMed [citation]

PMID:: 16199542
PMCID:: PMC1735926

Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors.

Maron BJ, Maron MS, Semsarian C.

Heart Rhythm. 2012 Jan;9(1):57-63. doi: 10.1016/j.hrthm.2011.08.009. Epub 2011 Aug 9.

PubMed [citation]

PMID:: 21839045

See all PubMed Citations (4)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV005412321.1

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

Description

BP4, PS4_supporting

#	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		1	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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