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NM_000257.4(MYH7):c.3865C>T (p.Arg1289Trp) AND Hypertrophic cardiomyopathy 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 30, 2016
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:
RCV000415721.1

Allele description [Variation Report for NM_000257.4(MYH7):c.3865C>T (p.Arg1289Trp)]

NM_000257.4(MYH7):c.3865C>T (p.Arg1289Trp)

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.3865C>T (p.Arg1289Trp)
HGVS:
  • NC_000014.9:g.23419284G>A
  • NG_007884.1:g.21378C>T
  • NM_000257.4:c.3865C>TMANE SELECT
  • NP_000248.2:p.Arg1289Trp
  • LRG_384t1:c.3865C>T
  • LRG_384:g.21378C>T
  • NC_000014.8:g.23888493G>A
  • NM_000257.2:c.3865C>T
  • NM_000257.3:c.3865C>T
Protein change:
R1289W
Links:
dbSNP: rs180824037
NCBI 1000 Genomes Browser:
rs180824037
Molecular consequence:
  • NM_000257.4:c.3865C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypertrophic cardiomyopathy 1
Synonyms:
Familial hypertrophic cardiomyopathy 1; MYH7-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0008647; MedGen: C3495498; OMIM: 192600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000493771Knight Diagnostic Laboratories, Oregon Health and Sciences University - CSER-NextGen
no assertion criteria provided

(ACMG Guidelines, 2015)
Uncertain significance
(Mar 30, 2016)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Knight Diagnostic Laboratories, Oregon Health and Sciences University - CSER-NextGen, SCV000493771.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024