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

Clinical significance:Likely benign (Last evaluated: Sep 26, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000865427.3

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:
Hypertrophic cardiomyopathy
Identifiers:
MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; OMIM: PS192600; Human Phenotype Ontology: HP:0001639

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001006388Invitaecriteria provided, single submitter
Likely benign
(Sep 26, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001006388.3

#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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