NM_000257.4(MYH7):c.3013C>G (p.Gln1005Glu) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 16, 2022
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:: RCV002441108.2

Allele description [Variation Report for NM_000257.4(MYH7):c.3013C>G (p.Gln1005Glu)]

NM_000257.4(MYH7):c.3013C>G (p.Gln1005Glu)

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.3013C>G (p.Gln1005Glu)

HGVS:

NC_000014.9:g.23423633G>C
NG_007884.1:g.17029C>G
NM_000257.4:c.3013C>GMANE SELECT
NP_000248.2:p.Gln1005Glu
LRG_384:g.17029C>G
NC_000014.8:g.23892842G>C

Protein change:

Q1005E

Links:

dbSNP: rs1892572355

NCBI 1000 Genomes Browser:

rs1892572355

Molecular consequence:

NM_000257.4:c.3013C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

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Burkholderia sp. BL186 16S ribosomal RNA gene, partial sequence
Burkholderia sp. BL186 16S ribosomal RNA gene, partial sequence
gi|351693434|gb|JN643573.1|

Nucleotide
glycoprotein endo-alpha-1,2-mannosidase-like protein isoform 2 [Homo sapiens]
glycoprotein endo-alpha-1,2-mannosidase-like protein isoform 2 [Homo sapiens]
gi|22749033|ref|NP_689709.1|

Protein
LOC129058728 [Pongo abelii]
LOC129058728 [Pongo abelii]
Gene ID:129058728

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002753308	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 16, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002753308

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 16, 2022)

germline

clinical testing

Citation Link

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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

Details of each submission

From Ambry Genetics, SCV002753308.2

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

Description

The p.Q1005E variant (also known as c.3013C>G), located in coding exon 22 of the MYH7 gene, results from a C to G substitution at nucleotide position 3013. The glutamine at codon 1005 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: Sep 29, 2024

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