NM_000257.4(MYH7):c.3100-5A>G AND Cardiomyopathy

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 31, 2019
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:: RCV001188736.2

Allele description [Variation Report for NM_000257.4(MYH7):c.3100-5A>G]

NM_000257.4(MYH7):c.3100-5A>G

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.3100-5A>G

HGVS:

NC_000014.9:g.23422330T>C
NG_007884.1:g.18332A>G
NM_000257.4:c.3100-5A>GMANE SELECT
LRG_384:g.18332A>G
NC_000014.8:g.23891539T>C
NM_000257.3:c.3100-5A>G

Links:

dbSNP: rs780522390

NCBI 1000 Genomes Browser:

rs780522390

Molecular consequence:

NM_000257.4:c.3100-5A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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LY75 [Nothoprocta perdicaria]
LY75 [Nothoprocta perdicaria]
Gene ID:112959305

Gene
SUCLA2 [Nothoprocta perdicaria]
SUCLA2 [Nothoprocta perdicaria]
Gene ID:112959293

Gene
Homologene neighbors for GEO Profiles (Select 109385074) (0)
GEO Profiles
Taxonomy Links for Nucleotide (Select 343207524) (1)
Taxonomy
PMC Links for GEO DataSets (Select 3628) (1)
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001355872	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jan 31, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001355872

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Jan 31, 2019)

germline

clinical testing

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

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Color Diagnostics, LLC DBA Color Health, SCV001355872.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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