NM_000257.4(MYH7):c.4699C>T (p.Gln1567Ter) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 11, 2023
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:: RCV003372978.2

Allele description [Variation Report for NM_000257.4(MYH7):c.4699C>T (p.Gln1567Ter)]

NM_000257.4(MYH7):c.4699C>T (p.Gln1567Ter)

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.4699C>T (p.Gln1567Ter)

HGVS:

NC_000014.9:g.23416258G>A
NG_007884.1:g.24404C>T
NG_086395.1:g.1113G>A
NM_000257.4:c.4699C>TMANE SELECT
NM_001407004.1:c.4699C>T
NP_000248.2:p.Gln1567Ter
NP_000248.2:p.Gln1567Ter
NP_001393933.1:p.Gln1567Ter
LRG_384t1:c.4699C>T
LRG_384:g.24404C>T
LRG_384p1:p.Gln1567Ter
NC_000014.8:g.23885467G>A
NM_000257.2:c.4699C>T
NM_000257.3:c.4699C>T
NR_126491.1:n.519G>A

Protein change:

Q1567*; GLN1567TER

Links:

OMIM: 160760.0049; dbSNP: rs1892204411

NCBI 1000 Genomes Browser:

rs1892204411

Molecular consequence:

NR_126491.1:n.519G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000257.4:c.4699C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407004.1:c.4699C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004094309	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 11, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004094309

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 11, 2023)

germline

clinical testing

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

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

Citations

PubMed

Recessive MYH7-related myopathy in two families.

Beecroft SJ, van de Locht M, de Winter JM, Ottenheijm CA, Sewry CA, Mohammed S, Ryan MM, Woodcock IR, Sanders L, Gooding R, Davis MR, Oates EC, Laing NG, Ravenscroft G, McLean CA, Jungbluth H.

Neuromuscul Disord. 2019 Jun;29(6):456-467. doi: 10.1016/j.nmd.2019.04.002. Epub 2019 Apr 12.

PubMed [citation]

PMID:: 31130376

Details of each submission

From Ambry Genetics, SCV004094309.2

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

Description

The p.Q1567* variant (also known as c.4699C>T), located in coding exon 32 of the MYH7 gene, results from a C to T substitution at nucleotide position 4699. This changes the amino acid from a glutamine to a stop codon within coding exon 32. This alteration has been observed in trans with an additional alteration in MYH7 in an individual with concerns for skeletal myopathy (Beecroft SJ et al. Neuromuscul Disord, 2019 Jun;29:456-467). This alteration is expected to result in protein truncation or nonsense-mediated mRNA decay. However, loss of function of MYH7 has not been established as a mechanism of disease. 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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