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NC_000011.10:g.47333189C>T AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 23, 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:
RCV002321476.3

Allele description [Variation Report for NC_000011.10:g.47333189C>T]

NC_000011.10:g.47333189C>T

Gene:
MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NC_000011.10:g.47333189C>T
HGVS:
  • NC_000011.10:g.47333189C>T
  • NG_007667.1:g.24514G>A
  • NM_000256.3:c.3330+5G>AMANE SELECT
  • LRG_386t1:c.3330+5G>A
  • LRG_386:g.24514G>A
  • NC_000011.9:g.47354740C>T
Nucleotide change:
IVS, G-C, +5
Links:
OMIM: 600958.0001; dbSNP: rs373746463
NCBI 1000 Genomes Browser:
rs373746463

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002605813Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 23, 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

Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy.

Wang J, Wang Y, Zou Y, Sun K, Wang Z, Ding H, Yuan J, Wei W, Hou Q, Wang H, Liu X, Zhang H, Ji Y, Zhou X, Sharma RK, Wang D, Ahmad F, Hui R, Song L.

Eur J Heart Fail. 2014 Sep;16(9):950-7. doi: 10.1002/ejhf.144. Epub 2014 Jul 31.

PubMed [citation]
PMID:
25132132

Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.

Ito K, Patel PN, Gorham JM, McDonough B, DePalma SR, Adler EE, Lam L, MacRae CA, Mohiuddin SM, Fatkin D, Seidman CE, Seidman JG.

Proc Natl Acad Sci U S A. 2017 Jul 18;114(29):7689-7694. doi: 10.1073/pnas.1707741114. Epub 2017 Jul 5.

PubMed [citation]
PMID:
28679633
PMCID:
PMC5528995
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV002605813.3

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

Description

The c.3330+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 30 in the MYBPC3 gene. This variant has been reported in individuals with hypertrophic cardiomyopathy (HCM), at least some of whom had additional variants in MYBPC3 and other cardiomyopathy-related genes (Wang J et al. Eur J Heart Fail. 2014;16(9):950-7; Norrish G et al. Circulation, 2019 07;140:184-192). Limited minigene assays demonstrated the creation of some abnormal RNA splicing transcripts (Ito K et al. Proc. Natl. Acad. Sci. U.S.A., 2017 07;114:7689-7694). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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

Last Updated: Oct 8, 2024