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NM_053025.4(MYLK):c.3511G>A (p.Val1171Ile) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 27, 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:
RCV003300935.1

Allele description [Variation Report for NM_053025.4(MYLK):c.3511G>A (p.Val1171Ile)]

NM_053025.4(MYLK):c.3511G>A (p.Val1171Ile)

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.3511G>A (p.Val1171Ile)
HGVS:
  • NC_000003.12:g.123692789C>T
  • NG_029111.1:g.196514G>A
  • NG_029111.2:g.196543G>A
  • NM_001321309.2:c.2983G>A
  • NM_053025.4:c.3511G>AMANE SELECT
  • NM_053026.4:c.3304G>A
  • NM_053027.4:c.3511G>A
  • NM_053028.4:c.3304G>A
  • NP_001308238.1:p.Val995Ile
  • NP_444253.3:p.Val1171Ile
  • NP_444254.3:p.Val1102Ile
  • NP_444255.3:p.Val1171Ile
  • NP_444256.3:p.Val1102Ile
  • NC_000003.11:g.123411636C>T
  • NM_053025.3:c.3511G>A
Protein change:
V1102I
Molecular consequence:
  • NM_001321309.2:c.2983G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_053025.4:c.3511G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_053026.4:c.3304G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_053027.4:c.3511G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_053028.4:c.3304G>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
SCV003997331Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(May 27, 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, SCV003997331.1

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

Description

The p.V1171I variant (also known as c.3511G>A), located in coding exon 16 of the MYLK gene, results from a G to A substitution at nucleotide position 3511. The valine at codon 1171 is replaced by isoleucine, 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: Jul 16, 2023