NM_000257.4(MYH7):c.3010C>G (p.Gln1004Glu) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 19, 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:: RCV002433703.2

Allele description [Variation Report for NM_000257.4(MYH7):c.3010C>G (p.Gln1004Glu)]

NM_000257.4(MYH7):c.3010C>G (p.Gln1004Glu)

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.3010C>G (p.Gln1004Glu)

Other names:

p.Q1004E:CAA>GAA

HGVS:

NC_000014.9:g.23423636G>C
NG_007884.1:g.17026C>G
NM_000257.4:c.3010C>GMANE SELECT
NP_000248.2:p.Gln1004Glu
LRG_384t1:c.3010C>G
LRG_384:g.17026C>G
NC_000014.8:g.23892845G>C
NM_000257.2:c.3010C>G
NM_000257.3:c.3010C>G

Protein change:

Q1004E

Links:

dbSNP: rs730880762

NCBI 1000 Genomes Browser:

rs730880762

Molecular consequence:

NM_000257.4:c.3010C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Homo sapiens tectonic family member 3 (TCTN3), transcript variant 2, mRNA
Homo sapiens tectonic family member 3 (TCTN3), transcript variant 2, mRNA
gi|62079293|ref|NM_015631.2|

Nucleotide
Balloon Enteroscopy
Balloon Enteroscopy
An endoscopy of the small intestines accomplished while advancing the endoscope, which is assisted by one or two balloons<br/>Year introduced: 2017

MeSH
Pogonatum urnigerum (1)
Taxonomy

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002753332	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 19, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002753332

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 19, 2019)

germline

clinical testing

Citation Link

Help

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

Details of each submission

From Ambry Genetics, SCV002753332.2

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

Description

The p.Q1004E variant (also known as c.3010C>G), located in coding exon 22 of the MYH7 gene, results from a C to G substitution at nucleotide position 3010. The glutamine at codon 1004 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Nov 3, 2024

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