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NM_000256.3(MYBPC3):c.3021G>A (p.Trp1007Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 16, 2014
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:
RCV000158455.1

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3021G>A (p.Trp1007Ter)]

NM_000256.3(MYBPC3):c.3021G>A (p.Trp1007Ter)

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.3021G>A (p.Trp1007Ter)
Other names:
p.W1007*:TGG>TGA
HGVS:
  • NC_000011.10:g.47333726C>T
  • NG_007667.1:g.23977G>A
  • NM_000256.3:c.3021G>AMANE SELECT
  • NP_000247.2:p.Trp1007Ter
  • LRG_386t1:c.3021G>A
  • LRG_386:g.23977G>A
  • LRG_386p1:p.Trp1007Ter
  • NC_000011.9:g.47355277C>T
Protein change:
W1007*
Links:
dbSNP: rs730880701
NCBI 1000 Genomes Browser:
rs730880701
Molecular consequence:
  • NM_000256.3:c.3021G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000208390GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Oct 16, 2014) 		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, SCV000208390.9

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

Description

This mutation is denoted p.Trp1007Ter (TGG>TGA): c.3021 G>A in exon 29 of the MYBPC3 gene (NM_000256.3). The W1007X mutation in the MYBPC3 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. W1007X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense mutations in the MYBPC3 gene have been reported in association with HCM. Furthermore, the W1007X mutation was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In summary, W1007X in the MYBPC3 gene is interpreted as a disease-causing mutation. The variant is found in HCM panel(s).

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

Last Updated: Nov 5, 2022