NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) AND not specified

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 27, 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:: RCV000035586.3

Allele description

NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr)

Gene:

MYBPC3:myosin binding protein C, cardiac [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

Preferred name:

NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr)

HGVS:

NC_000011.10:g.47332912A>G
NG_007667.1:g.24791T>C
NM_000256.3:c.3392T>C
NP_000247.2:p.Ile1131Thr
LRG_386t1:c.3392T>C
LRG_386:g.24791T>C
LRG_386p1:p.Ile1131Thr
NC_000011.9:g.47354463A>G
Q14896:p.Ile1131Thr
c.3392T>C

Protein change:

I1131T

Links:

UniProtKB: Q14896#VAR_029428; dbSNP: rs370890951

NCBI 1000 Genomes Browser:

rs370890951

Allele Frequency:

0.0006, GO-ESP

Molecular consequence:

NM_000256.3:c.3392T>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
SCV000059236	Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Apr 27, 2015)	germline	clinical testing	PubMed (9) [See all records that cite these PMIDs] 14563344, 15519027, 16352453, 22361390, 23140321, 23299917, 23785128, 24510615, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000059236

Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Apr 27, 2015)

germline

clinical testing

PubMed (9)
[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	9	7	not provided	not provided	not provided	clinical testing

Citations

PubMed

The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.

Alders M, Jongbloed R, Deelen W, van den Wijngaard A, Doevendans P, Ten Cate F, Regitz-Zagrosek V, Vosberg HP, van Langen I, Wilde A, Dooijes D, Mannens M.

Eur Heart J. 2003 Oct;24(20):1848-53.

PubMed [citation]

PMID:: 14563344

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ.

J Am Coll Cardiol. 2004 Nov 2;44(9):1903-10.

PubMed [citation]

PMID:: 15519027

See all PubMed Citations (9)

Details of each submission

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000059236.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	9	not provided	not provided	clinical testing	PubMed (9)

Description

p.Ile1131Thr in exon 31 of MYBPC3: This variant is not expected to have clinical significance because it has been identified in 0.3% (14/4490) of Finnish chromosomes and 0.15% (72/48504) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs370890951). Additionally, isoleucine (Ile) at position 1131 is not conserved in mammals or evolutionarily distant species and 1 mammal (prairie vole) carries a threonine (Thr) at this position, supporting that this change may be tolerated.

#	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		9	not provided	7	not provided

Last Updated: Jun 20, 2017

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