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NM_000257.4(MYH7):c.3148C>T (p.Arg1050Ter) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 6, 2017
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:
RCV000158589.2

Allele description [Variation Report for NM_000257.4(MYH7):c.3148C>T (p.Arg1050Ter)]

NM_000257.4(MYH7):c.3148C>T (p.Arg1050Ter)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.3148C>T (p.Arg1050Ter)
Other names:
p.R1050*:CGA>TGA
HGVS:
  • NC_000014.9:g.23422277G>A
  • NG_007884.1:g.18385C>T
  • NM_000257.4:c.3148C>TMANE SELECT
  • NP_000248.2:p.Arg1050Ter
  • LRG_384t1:c.3148C>T
  • LRG_384:g.18385C>T
  • NC_000014.8:g.23891486G>A
  • NM_000257.2:c.3148C>T
  • NM_000257.3:c.3148C>T
Protein change:
R1050*
Links:
dbSNP: rs730880767
NCBI 1000 Genomes Browser:
rs730880767
Molecular consequence:
  • NM_000257.4:c.3148C>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
SCV000208524GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jan 6, 2017) 		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, SCV000208524.11

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

Description

p.Arg1050Stop (CGA>TGA): c.3148 C>T in exon 25 of the MYH7 gene (NM_000257.2). A variant of unknown significance has been identified in the MYH7 gene. The R1050X variant in the MYH7 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. R1050X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Although nonsense mutations in the MYH7 gene have been reported in association with cardiomyopathy, the vast majority of mutations in MYH7 are missense changes. Furthermore, various studies have conflicting hypotheses regarding MYH7 haploinsufficiency leading to cardiomyopathy (Nishi H et al., 1995; Waldmuller S et al., 2011). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s).

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

Last Updated: Sep 29, 2024