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NM_053025.4(MYLK):c.1566C>A (p.Asp522Glu) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 17, 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:
RCV003166476.1

Allele description [Variation Report for NM_053025.4(MYLK):c.1566C>A (p.Asp522Glu)]

NM_053025.4(MYLK):c.1566C>A (p.Asp522Glu)

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.1566C>A (p.Asp522Glu)
HGVS:
  • NC_000003.12:g.123726029G>T
  • NG_029111.1:g.163274C>A
  • NM_001321309.2:c.1038C>A
  • NM_053025.4:c.1566C>AMANE SELECT
  • NM_053026.4:c.1359C>A
  • NM_053027.4:c.1566C>A
  • NM_053028.4:c.1359C>A
  • NP_001308238.1:p.Asp346Glu
  • NP_444253.3:p.Asp522Glu
  • NP_444254.3:p.Asp453Glu
  • NP_444255.3:p.Asp522Glu
  • NP_444256.3:p.Asp453Glu
  • NC_000003.11:g.123444876G>T
  • NM_053025.3:c.1566C>A
Protein change:
D346E
Links:
dbSNP: rs1262457848
NCBI 1000 Genomes Browser:
rs1262457848
Molecular consequence:
  • NM_001321309.2:c.1038C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_053025.4:c.1566C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_053026.4:c.1359C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_053027.4:c.1566C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_053028.4:c.1359C>A - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003864612Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Nov 17, 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, SCV003864612.1

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

Description

The p.D522E variant (also known as c.1566C>A), located in coding exon 9 of the MYLK gene, results from a C to A substitution at nucleotide position 1566. The aspartic acid at codon 522 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is conserved. 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.

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

Last Updated: Feb 20, 2024