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NM_000257.4(MYH7):c.821T>C (p.Ile274Thr) AND Primary dilated cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 19, 2023
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:
RCV003447561.1

Allele description [Variation Report for NM_000257.4(MYH7):c.821T>C (p.Ile274Thr)]

NM_000257.4(MYH7):c.821T>C (p.Ile274Thr)

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.821T>C (p.Ile274Thr)
HGVS:
  • NC_000014.9:g.23430975A>G
  • NG_007884.1:g.9687T>C
  • NM_000257.4:c.821T>CMANE SELECT
  • NP_000248.2:p.Ile274Thr
  • LRG_384t1:c.821T>C
  • LRG_384:g.9687T>C
  • NC_000014.8:g.23900184A>G
  • NM_000257.2:c.821T>C
  • NM_000257.3:c.821T>C
Protein change:
I274T
Links:
dbSNP: rs773456019
NCBI 1000 Genomes Browser:
rs773456019
Molecular consequence:
  • NM_000257.4:c.821T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004175232Genetics and Molecular Pathology, SA Pathology

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 19, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Genetics and Molecular Pathology, SA Pathology, SCV004175232.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The MYH7 c.821T>C variant is classified as VUS (PM1, PM2) The MYH7 c.821T>C variant is a single nucleotide change in exon 10/40 of the MYH7 gene, which is predicted to change the amino acid isoleucine at position 274 in the protein, to threonine. This variant is located in the conserved functional domain of the MYH7 protein (PM1) and is rare in population databases (PM2). The variant has been reported in dbSNP (rs773456019), is not reported in HGMD and has been reported as Uncertain significance by other diagnostic laboratories, associated with a cardiomyopathy phenotype (ClinVar Variation ID: 626547).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024