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NM_053025.4(MYLK):c.2911G>C (p.Val971Leu) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 3, 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:
RCV002439838.1

Allele description [Variation Report for NM_053025.4(MYLK):c.2911G>C (p.Val971Leu)]

NM_053025.4(MYLK):c.2911G>C (p.Val971Leu)

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.2911G>C (p.Val971Leu)
HGVS:
  • NC_000003.12:g.123700557C>G
  • NG_029111.2:g.188775G>C
  • NM_001321309.2:c.2383G>C
  • NM_053025.4:c.2911G>CMANE SELECT
  • NM_053026.4:c.2704G>C
  • NM_053027.4:c.2911G>C
  • NM_053028.4:c.2704G>C
  • NP_001308238.1:p.Val795Leu
  • NP_444253.3:p.Val971Leu
  • NP_444254.3:p.Val902Leu
  • NP_444255.3:p.Val971Leu
  • NP_444256.3:p.Val902Leu
  • NC_000003.11:g.123419404C>G
  • NG_029111.1:g.188746G>C
  • NM_053025.3:c.2911G>C
Protein change:
V795L
Molecular consequence:
  • NM_001321309.2:c.2383G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_053025.4:c.2911G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_053026.4:c.2704G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_053027.4:c.2911G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_053028.4:c.2704G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV002750974Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Mar 3, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV002750974.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.V971L variant (also known as c.2911G>C), located in coding exon 15 of the MYLK gene, results from a G to C substitution at nucleotide position 2911. The valine at codon 971 is replaced by leucine, 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 20, 2024