NM_053025.4(MYLK):c.2060C>T (p.Pro687Leu) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jan 31, 2022
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:: RCV001798951.3

Allele description [Variation Report for NM_053025.4(MYLK):c.2060C>T (p.Pro687Leu)]

NM_053025.4(MYLK):c.2060C>T (p.Pro687Leu)

Gene:

MYLK:myosin light chain kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.1

Genomic location:

Preferred name:

NM_053025.4(MYLK):c.2060C>T (p.Pro687Leu)

HGVS:

NC_000003.12:g.123708778G>A
NG_029111.1:g.180525C>T
NM_001321309.2:c.1532C>T
NM_053025.4:c.2060C>TMANE SELECT
NM_053026.4:c.1853C>T
NM_053027.4:c.2060C>T
NM_053028.4:c.1853C>T
NP_001308238.1:p.Pro511Leu
NP_444253.3:p.Pro687Leu
NP_444254.3:p.Pro618Leu
NP_444255.3:p.Pro687Leu
NP_444256.3:p.Pro618Leu
NC_000003.11:g.123427625G>A
NM_053025.3:c.2060C>T
p.Pro687Leu

Protein change:

P511L

Links:

dbSNP: rs144923036

NCBI 1000 Genomes Browser:

rs144923036

Molecular consequence:

NM_001321309.2:c.1532C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_053025.4:c.2060C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_053026.4:c.1853C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_053027.4:c.2060C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_053028.4:c.1853C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Familial thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:: Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:: MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002043659	CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 20, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002724779	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Jan 31, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002043659

CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 20, 2020)

germline

clinical testing

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

SCV002724779

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Jan 31, 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	1	not provided	not provided	1	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 CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario, SCV002043659.1

#	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 Ambry Genetics, SCV002724779.1

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

Description

The p.P687L variant (also known as c.2060C>T), located in coding exon 12 of the MYLK gene, results from a C to T substitution at nucleotide position 2060. The proline at codon 687 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Mar 30, 2024

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