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NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 11, 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:
RCV002408712.3

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile)]

NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile)

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.1805C>T (p.Thr602Ile)
Other names:
p.T602I:ACC>ATC
HGVS:
  • NC_000011.10:g.47341230G>A
  • NG_007667.1:g.16473C>T
  • NM_000256.3:c.1805C>TMANE SELECT
  • NP_000247.2:p.Thr602Ile
  • LRG_386t1:c.1805C>T
  • LRG_386:g.16473C>T
  • LRG_386p1:p.Thr602Ile
  • NC_000011.9:g.47362781G>A
Protein change:
T602I
Links:
dbSNP: rs730880551
NCBI 1000 Genomes Browser:
rs730880551
Molecular consequence:
  • NM_000256.3:c.1805C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002714918Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 11, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.

Bos JM, Will ML, Gersh BJ, Kruisselbrink TM, Ommen SR, Ackerman MJ.

Mayo Clin Proc. 2014 Jun;89(6):727-37. doi: 10.1016/j.mayocp.2014.01.025. Epub 2014 May 1.

PubMed [citation]
PMID:
24793961
PMCID:
PMC4234122

RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.

Al-Wakeel-Marquard N, Degener F, Herbst C, Kühnisch J, Dartsch J, Schmitt B, Kuehne T, Messroghli D, Berger F, Klaassen S.

J Am Heart Assoc. 2019 Aug 6;8(15):e012531. doi: 10.1161/JAHA.119.012531. Epub 2019 Jul 23.

PubMed [citation]
PMID:
31333075
PMCID:
PMC6761660
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV002714918.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

The p.T602I variant (also known as c.1805C>T), located in coding exon 19 of the MYBPC3 gene, results from a C to T substitution at nucleotide position 1805. The threonine at codon 602 is replaced by isoleucine, an amino acid with similar properties. This variant was reported in a hypertrophic cardiomyopathy (HCM) cohort; however clinical details were limited (Bos JM et al. Mayo Clin. Proc., 2014 Jun;89:727-37). This variant was also reported in an individual with left ventricular non-compaction (LVNC), who had an additional MYH7 variant detected; her unaffected father was also found to have this p.T602I variant, whereas her affected mother was heterozygous for the MYH7 variant (Al-Wakeel-Marquard N et al. J Am Heart Assoc, 2019 Aug;8:e012531; Kühnisch J et al. Clin. Genet., 2019 Sep;[Epub ahead of print]). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024