NM_000257.4(MYH7):c.4980A>G (p.Ala1660=) AND Cardiomyopathy

Germline classification:: Likely benign (2 submissions)
Last evaluated:: May 15, 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:: RCV001179398.4

Allele description [Variation Report for NM_000257.4(MYH7):c.4980A>G (p.Ala1660=)]

NM_000257.4(MYH7):c.4980A>G (p.Ala1660=)

Genes:

LOC126861897:BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 [Gene]
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.4980A>G (p.Ala1660=)

HGVS:

NC_000014.9:g.23415806T>C
NG_007884.1:g.24856A>G
NM_000257.4:c.4980A>GMANE SELECT
NP_000248.2:p.Ala1660=
LRG_384t1:c.4980A>G
LRG_384:g.24856A>G
NC_000014.8:g.23885015T>C
NM_000257.2:c.4980A>G
NM_000257.3:c.4980A>G
NR_126491.1:n.238T>C

Links:

dbSNP: rs112943492

NCBI 1000 Genomes Browser:

rs112943492

Molecular consequence:

NR_126491.1:n.238T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000257.4:c.4980A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

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

Recent activity

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E3 ubiquitin-protein ligase SH3RF2 isoform X1 [Cervus elaphus]
E3 ubiquitin-protein ligase SH3RF2 isoform X1 [Cervus elaphus]
gi|2102117326|ref|XP_043769069.1|

Protein
PREDICTED: Homo sapiens integrator complex subunit 9 (INTS9), transcript variant...
PREDICTED: Homo sapiens integrator complex subunit 9 (INTS9), transcript variant X4, mRNA
gi|2217372478|ref|XM_006716357.5|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001344053	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jun 30, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004824067	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely Benign (May 15, 2023)	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

SCV001344053

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Jun 30, 2019)

germline

clinical testing

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

SCV004824067

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely Benign
(May 15, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	2	not provided	not provided	108544	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, SCV001344053.1

#	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

From All of Us Research Program, National Institutes of Health, SCV004824067.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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	108544	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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