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NM_000257.4(MYH7):c.2714G>C (p.Cys905Ser) AND Cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 6, 2016
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:
RCV000769454.2

Allele description [Variation Report for NM_000257.4(MYH7):c.2714G>C (p.Cys905Ser)]

NM_000257.4(MYH7):c.2714G>C (p.Cys905Ser)

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.2714G>C (p.Cys905Ser)
Other names:
p.C905S:TGT>TCT; NM_000257.4(MYH7):c.2714G>C; p.Cys905Ser
HGVS:
  • NC_000014.9:g.23424115C>G
  • NG_007884.1:g.16547G>C
  • NM_000257.4:c.2714G>CMANE SELECT
  • NP_000248.2:p.Cys905Ser
  • LRG_384t1:c.2714G>C
  • LRG_384:g.16547G>C
  • NC_000014.8:g.23893324C>G
  • NC_000014.8:g.23893324C>G
  • NM_000257.2:c.2714G>C
  • NM_000257.3:c.2714G>C
Protein change:
C905S
Links:
dbSNP: rs730880757
NCBI 1000 Genomes Browser:
rs730880757
Molecular consequence:
  • NM_000257.4:c.2714G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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    MDH2 malate dehydrogenase 2 [Sus scrofa]
    Gene ID:397039
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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000900848CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 6, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository, SCV000900848.1

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

Last Updated: Sep 29, 2024