NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 5, 2019
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:
RCV000154201.8

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln)]

NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln)

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.3005G>A (p.Arg1002Gln)
Other names:
p.R1002Q:CGG>CAG
HGVS:
  • NC_000011.10:g.47333742C>T
  • NG_007667.1:g.23961G>A
  • NM_000256.3:c.3005G>AMANE SELECT
  • NP_000247.2:p.Arg1002Gln
  • LRG_386t1:c.3005G>A
  • LRG_386:g.23961G>A
  • LRG_386p1:p.Arg1002Gln
  • NC_000011.9:g.47355293C>T
  • Q14896:p.Arg1002Gln
Protein change:
R1002Q
Links:
UniProtKB: Q14896#VAR_029423; dbSNP: rs727504235
NCBI 1000 Genomes Browser:
rs727504235
Molecular consequence:
  • NM_000256.3:c.3005G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000203853Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Apr 5, 2019) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown22not providednot providednot providedclinical testing

Citations

PubMed

Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy.

Ho CY, Carlsen C, Thune JJ, Havndrup O, Bundgaard H, Farrohi F, Rivero J, Cirino AL, Andersen PS, Christiansen M, Maron BJ, Orav EJ, Køber L.

Circ Cardiovasc Genet. 2009 Aug;2(4):314-21. doi: 10.1161/CIRCGENETICS.109.862128. Epub 2009 Jun 19.

PubMed [citation]
PMID:
20031602
PMCID:
PMC2773504

Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.

Niimura H, Patton KK, McKenna WJ, Soults J, Maron BJ, Seidman JG, Seidman CE.

Circulation. 2002 Jan 29;105(4):446-51.

PubMed [citation]
PMID:
11815426
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000203853.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (3)

Description

The p.Arg1002Gln variant in MYBPC3 has been reported in 3 individuals with HCM (Niimura 2002, Ho 2009 and LVOD unpublished data). This variant was also identified by our laboratory in 1 individual with DCM and in 1 individual with giant right atrium and arrhythmia (LMM unpublished data). In addition, this variant was identified in 4/62092 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Arginine (Arg) at position 1002 is not conserved in evolutionarily distant species and the change to glutamine (Gln) is present in several birds. Additional computational prediction tools do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of the Arg1002Gln variant is uncertain, the presence of the variant amino acid in multiple bird species suggests that it is more likely to be benign.,The Arg1002Gln variant in MYBPC3 has been reported in 3 individuals with HCM (Niimura 2002, Ho 2009 and LVOD unpublished data). This variant was also identified by our laboratory in 1 individual with DCM and in 1 individual with giant right atrium and arrhythmia (LMM unpublished data). In addition, this variant was identified in 4/62092 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Arginine (Arg) at position 1002 is not conserved in evolutionarily distant species and the change to glutamine (Gln) is present in several birds. Additional computational prediction tools do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of the Arg1002Gln variant is uncertain, the presence of the variant amino acid in multiple bird species suggests that it is more likely to be benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not provided2not provided

Last Updated: Feb 28, 2024