NM_000256.3(MYBPC3):c.1024G>A (p.Val342Ile) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 10, 2012
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:: RCV000035365.5

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1024G>A (p.Val342Ile)]

NM_000256.3(MYBPC3):c.1024G>A (p.Val342Ile)

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.1024G>A (p.Val342Ile)

HGVS:

NC_000011.10:g.47346273C>T
NG_007667.1:g.11430G>A
NM_000256.3:c.1024G>AMANE SELECT
NP_000247.2:p.Val342Ile
LRG_386t1:c.1024G>A
LRG_386:g.11430G>A
LRG_386p1:p.Val342Ile
NC_000011.9:g.47367824C>T
c.1024G>A

Protein change:

V342I

Links:

dbSNP: rs397515882

NCBI 1000 Genomes Browser:

rs397515882

Molecular consequence:

NM_000256.3:c.1024G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Cymbula granatina mitochondrial COI gene, partial sequence, isolate: DRBCG9
Cymbula granatina mitochondrial COI gene, partial sequence, isolate: DRBCG9
gi|1109514585|dbj|LC075670.1|

Nucleotide
Cymbula granatina nucleomorph ATPSb gene, intron, haplotype: CMBCg7
Cymbula granatina nucleomorph ATPSb gene, intron, haplotype: CMBCg7
gi|1109514760|dbj|LC092161.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000059013	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Aug 10, 2012)	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

SCV000059013

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Aug 10, 2012)

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	3	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, SCV000059013.5

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

Description

Val342Ile in exon 12 of MYBPC3: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including several mamma ls and evolutionarily distant species that carry an isoleucine (Ile; this varian t) at this position despite high nearby amino acid conservation. In addition, co mputational analyses (AlignGVGD, PolyPhen2, SIFT) do not suggest a high likeliho od of impact to the protein.

#	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	1	not provided

Last Updated: Sep 29, 2024

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