NM_000257.4(MYH7):c.4668C>A (p.Gly1556=) AND Cardiomyopathy

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Dec 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000770471.2

Allele description [Variation Report for NM_000257.4(MYH7):c.4668C>A (p.Gly1556=)]

NM_000257.4(MYH7):c.4668C>A (p.Gly1556=)

Genes:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
MHRT:myosin heavy chain associated RNA transcript [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.4668C>A (p.Gly1556=)
HGVS:
  • NC_000014.9:g.23416289G>T
  • NG_007884.1:g.24373C>A
  • NM_000257.4:c.4668C>AMANE SELECT
  • NP_000248.2:p.Gly1556=
  • LRG_384t1:c.4668C>A
  • LRG_384:g.24373C>A
  • NC_000014.8:g.23885498G>T
  • NM_000257.2:c.4668C>A
  • NM_000257.3:c.4668C>A
  • NR_126491.1:n.550G>T
Links:
dbSNP: rs762762532
NCBI 1000 Genomes Browser:
rs762762532
Molecular consequence:
  • NR_126491.1:n.550G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000257.4:c.4668C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000901914CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario - Canadian Open Genetics Repositorycriteria provided, single submitter
Uncertain significance
(Apr 28, 2016)
germlineclinical testing

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

SCV001347473Color Health, Inccriteria provided, single submitter
Likely benign
(Dec 31, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

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, SCV000901914.1

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

From Color Health, Inc, SCV001347473.1

#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: Jul 10, 2021

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