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NM_000256.3(MYBPC3):c.2182G>T (p.Glu728Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 12, 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:
RCV000158141.2

Allele description [Variation Report for NM_000256.3(MYBPC3):c.2182G>T (p.Glu728Ter)]

NM_000256.3(MYBPC3):c.2182G>T (p.Glu728Ter)

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.2182G>T (p.Glu728Ter)
Other names:
p.E728*:GAG>TAG
HGVS:
  • NC_000011.10:g.47338646C>A
  • NG_007667.1:g.19057G>T
  • NM_000256.3:c.2182G>TMANE SELECT
  • NP_000247.2:p.Glu728Ter
  • LRG_386t1:c.2182G>T
  • LRG_386:g.19057G>T
  • LRG_386p1:p.Glu728Ter
  • NC_000011.9:g.47360197C>A
  • c.2182G>T
  • p.Glu728X
Protein change:
E728*
Links:
dbSNP: rs397515954
NCBI 1000 Genomes Browser:
rs397515954
Molecular consequence:
  • NM_000256.3:c.2182G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000208076GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jun 12, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000208076.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Identified in patients with HCM referred for genetic testing at GeneDx and in published literature (Forleo et al., 2017; Walsh et al., 2017; Weissler-Snir et al., 2017; Robyns et al., 2020; Park et al., 2022); at least one patient harbored an additional cardiogenetic variant; Identified in a patient with fetal cardiomyopathy who also harbored another pathogenic variant in the MYBPC3 gene, though phase was unknown (Trakmulkichkarn et al., 2022); both MYBPC3 variants were identified in this individual's sibling who died of SIDS with cardiac enlargement; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24810389, 27532257, 34542152, 28193612, 19574547, 28750076, 31513939, 34159662)

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

Last Updated: Sep 29, 2024