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NM_000257.4(MYH7):c.161G>A (p.Arg54Gln) AND Primary dilated cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 29, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000157346.2

Allele description [Variation Report for NM_000257.4(MYH7):c.161G>A (p.Arg54Gln)]

NM_000257.4(MYH7):c.161G>A (p.Arg54Gln)

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.161G>A (p.Arg54Gln)
HGVS:
  • NC_000014.9:g.23433572C>T
  • NG_007884.1:g.7090G>A
  • NM_000257.4:c.161G>AMANE SELECT
  • NP_000248.2:p.Arg54Gln
  • LRG_384t1:c.161G>A
  • LRG_384:g.7090G>A
  • NC_000014.8:g.23902781C>T
  • NM_000257.2:c.161G>A
  • NM_000257.3:c.161G>A
  • c.161G>A
Protein change:
R54Q
Links:
dbSNP: rs397516117
NCBI 1000 Genomes Browser:
rs397516117
Molecular consequence:
  • NM_000257.4:c.161G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Dilated Cardiomyopathy
Identifiers:
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000207083Blueprint Genetics
no assertion criteria provided
Uncertain significance
(Sep 29, 2014) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000207083.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024