U.S. flag

An official website of the United States government

NM_000257.4(MYH7):c.3301G>A (p.Gly1101Ser) 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:
RCV001175841.6

Allele description [Variation Report for NM_000257.4(MYH7):c.3301G>A (p.Gly1101Ser)]

NM_000257.4(MYH7):c.3301G>A (p.Gly1101Ser)

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.3301G>A (p.Gly1101Ser)
HGVS:
  • NC_000014.9:g.23420993C>T
  • NG_007884.1:g.19669G>A
  • NM_000257.4:c.3301G>AMANE SELECT
  • NP_000248.2:p.Gly1101Ser
  • LRG_384t1:c.3301G>A
  • LRG_384:g.19669G>A
  • NC_000014.8:g.23890202C>T
  • NM_000257.2:c.3301G>A
  • NM_000257.3:c.3301G>A
Protein change:
G1101S
Links:
dbSNP: rs367546859
NCBI 1000 Genomes Browser:
rs367546859
Molecular consequence:
  • NM_000257.4:c.3301G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
21

Condition(s)

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

Recent activity

Clear Turn Off Turn On
  • Aorta
    Aorta
    The main trunk of the systemic arteries.<br/>
    MeSH
  • Encephalitis Viruses, Tick-Borne
    Encephalitis Viruses, Tick-Borne
    A subgroup of the genus FLAVIVIRUS that causes encephalitis and hemorrhagic fevers and is found in eastern and western Europe and the former Soviet Union. It is transmitted by...<br/>Year introduced: 1966 (1965)
    MeSH

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001339612Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 2, 2022) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV004814400All of Us Research Program, National Institutes of Health
criteria provided, single submitter

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

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown21not providednot provided108544not providedclinical testing

Citations

PubMed

Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy.

Curila K, Benesova L, Penicka M, Minarik M, Zemanek D, Veselka J, Widimsky P, Gregor P.

Acta Cardiol. 2012 Feb;67(1):23-9.

PubMed [citation]
PMID:
22455086

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 Color Diagnostics, LLC DBA Color Health, SCV001339612.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This missense variant replaces glycine with serine at codon 1101 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 performed for this variant. This variant has been reported in an individual affected with hypertrophic cardiomyopathy (PMID: 22455086). This variant has been identified in 15/251430 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, SCV004814400.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided21not providednot providedclinical testing PubMed (2)

Description

This missense variant replaces glycine with serine at codon 1101 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 performed for this variant. This variant has been reported in an individual affected with hypertrophic cardiomyopathy (PMID: 22455086). This variant has been identified in 15/251430 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 provided21not providednot providednot provided

Last Updated: Sep 29, 2024