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NM_053025.4(MYLK):c.552C>T (p.Ile184=) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 16, 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:
RCV003177738.2

Allele description [Variation Report for NM_053025.4(MYLK):c.552C>T (p.Ile184=)]

NM_053025.4(MYLK):c.552C>T (p.Ile184=)

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.552C>T (p.Ile184=)
HGVS:
  • NC_000003.12:g.123738933G>A
  • NG_029111.1:g.150370C>T
  • NG_029111.2:g.150399C>T
  • NM_001321309.2:c.24C>T
  • NM_053025.4:c.552C>TMANE SELECT
  • NM_053026.4:c.552C>T
  • NM_053027.4:c.552C>T
  • NM_053028.4:c.552C>T
  • NP_001308238.1:p.Ile8=
  • NP_444253.3:p.Ile184=
  • NP_444254.3:p.Ile184=
  • NP_444255.3:p.Ile184=
  • NP_444256.3:p.Ile184=
  • NC_000003.11:g.123457780G>A
  • NM_053025.3:c.552C>T
Molecular consequence:
  • NM_001321309.2:c.24C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_053025.4:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_053026.4:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_053027.4:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_053028.4:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV003864641Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Feb 16, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003864641.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 1, 2024