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NM_053025.4(MYLK):c.4550A>T (p.His1517Leu) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 19, 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:
RCV003177722.1

Allele description

NM_053025.4(MYLK):c.4550A>T (p.His1517Leu)

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.4550A>T (p.His1517Leu)
HGVS:
  • NC_000003.12:g.123647293T>A
  • NG_029111.1:g.242010A>T
  • NG_029111.2:g.242039A>T
  • NM_001321309.2:c.4022A>T
  • NM_053025.4:c.4550A>TMANE SELECT
  • NM_053026.4:c.4343A>T
  • NM_053027.4:c.4550A>T
  • NM_053028.4:c.4343A>T
  • NP_001308238.1:p.His1341Leu
  • NP_444253.3:p.His1517Leu
  • NP_444254.3:p.His1448Leu
  • NP_444255.3:p.His1517Leu
  • NP_444256.3:p.His1448Leu
  • NC_000003.11:g.123366140T>A
  • NM_053025.3:c.4550A>T
Protein change:
H1341L
Molecular consequence:
  • NM_001321309.2:c.4022A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_053025.4:c.4550A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_053026.4:c.4343A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_053027.4:c.4550A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_053028.4:c.4343A>T - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003864613Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Nov 19, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003864613.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.H1517L variant (also known as c.4550A>T), located in coding exon 24 of the MYLK gene, results from an A to T substitution at nucleotide position 4550. The histidine at codon 1517 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2023