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NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn) AND Cardiomyopathy

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Dec 13, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001180810.13

Allele description [Variation Report for NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn)]

NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn)

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.3056C>A (p.Thr1019Asn)
HGVS:
  • NC_000014.9:g.23423590G>T
  • NG_007884.1:g.17072C>A
  • NM_000257.4:c.3056C>AMANE SELECT
  • NP_000248.2:p.Thr1019Asn
  • LRG_384:g.17072C>A
  • NC_000014.8:g.23892799G>T
  • NM_000257.3:c.3056C>A
  • P12883:p.Thr1019Asn
Protein change:
T1019N
Links:
UniProtKB: P12883#VAR_042819; dbSNP: rs755392435
NCBI 1000 Genomes Browser:
rs755392435
Molecular consequence:
  • NM_000257.4:c.3056C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
8

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001345831Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 16, 2022) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV004814414All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(Dec 13, 2023) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown8not providednot provided108544not providedclinical testing

Citations

PubMed

Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.

Villard E, Duboscq-Bidot L, Charron P, Benaiche A, Conraads V, Sylvius N, Komajda M.

Eur Heart J. 2005 Apr;26(8):794-803. Epub 2005 Mar 15.

PubMed [citation]
PMID:
15769782

Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing.

Gómez J, Reguero JR, Morís C, Martín M, Alvarez V, Alonso B, Iglesias S, Coto E.

Circ J. 2014;78(12):2963-71. Epub 2014 Oct 22.

PubMed [citation]
PMID:
25342278
See all PubMed Citations (5)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001345831.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This missense variant replaces threonine with asparagine at codon 1019 of the MYH7 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with hypertrophic cardiomyopathy (PMID: 25342278, 33495597). This variant has also been reported in an individual affected with dilated cardiomyopathy (PMID: 15769782). This variant has been identified in 4/251484 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

From All of Us Research Program, National Institutes of Health, SCV004814414.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided8not providednot providedclinical testing PubMed (5)

Description

This missense variant replaces threonine with asparagine at codon 1019 of the MYH7 protein. Computational prediction tools indicate that this variant has a neutral impact on protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in three individuals affected with hypertrophic cardiomyopathy (PMID: 25342278, 33495597, 33642254). One of these individuals also carried a pathogenic variant in the TPM1 gene (PMID: 33642254). This variant has also been reported in one individual affected with dilated cardiomyopathy (PMID: 15769782). This variant has been identified in 4/251484 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided8not providednot providednot provided

Last Updated: Oct 8, 2024