NM_000258.3(MYL3):c.265C>T (p.Gln89Ter) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 12, 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:: RCV002451526.2

Allele description [Variation Report for NM_000258.3(MYL3):c.265C>T (p.Gln89Ter)]

NM_000258.3(MYL3):c.265C>T (p.Gln89Ter)

Gene:

MYL3:myosin light chain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

Preferred name:

NM_000258.3(MYL3):c.265C>T (p.Gln89Ter)

HGVS:

NC_000003.12:g.46860718G>A
NG_007555.2:g.26452C>T
NM_000258.3:c.265C>TMANE SELECT
NP_000249.1:p.Gln89Ter
LRG_395t1:c.265C>T
LRG_395:g.26452C>T
NC_000003.11:g.46902208G>A
NM_000258.2:c.265C>T

Protein change:

Q89*

Links:

dbSNP: rs1701982801

NCBI 1000 Genomes Browser:

rs1701982801

Molecular consequence:

NM_000258.3:c.265C>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
SCV002739896	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 12, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002739896

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 12, 2022)

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, SCV002739896.2

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

Description

The p.Q89* variant (also known as c.265C>T), located in coding exon 3 of the MYL3 gene, results from a C to T substitution at nucleotide position 265. This changes the amino acid from a glutamine to a stop codon within coding exon 3. This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of MYL3 has not been clearly 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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