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NM_053025.4(MYLK):c.3020C>T (p.Ala1007Val) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 29, 2016
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:
RCV002313415.8

Allele description [Variation Report for NM_053025.4(MYLK):c.3020C>T (p.Ala1007Val)]

NM_053025.4(MYLK):c.3020C>T (p.Ala1007Val)

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.3020C>T (p.Ala1007Val)
HGVS:
  • NC_000003.12:g.123700448G>A
  • NG_029111.1:g.188855C>T
  • NM_001321309.2:c.2492C>T
  • NM_053025.4:c.3020C>TMANE SELECT
  • NM_053026.4:c.2813C>T
  • NM_053027.4:c.3020C>T
  • NM_053028.4:c.2813C>T
  • NP_001308238.1:p.Ala831Val
  • NP_444253.3:p.Ala1007Val
  • NP_444254.3:p.Ala938Val
  • NP_444255.3:p.Ala1007Val
  • NP_444256.3:p.Ala938Val
  • NC_000003.11:g.123419295G>A
  • NM_053025.3:c.3020C>T
Protein change:
A1007V
Links:
dbSNP: rs1382043515
NCBI 1000 Genomes Browser:
rs1382043515
Molecular consequence:
  • NM_001321309.2:c.2492C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_053025.4:c.3020C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_053026.4:c.2813C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_053027.4:c.3020C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_053028.4:c.2813C>T - 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
SCV000739278Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Feb 29, 2016) 		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, SCV000739278.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.A1007V variant (also known as c.3020C>T), located in coding exon 15 of the MYLK gene, results from a C to T substitution at nucleotide position 3020. The alanine at codon 1007 is replaced by valine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is poorly conserved in available vertebrate species, and valine is the reference amino acid in other vertebrate species. 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 variant remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024