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NM_002474.3(MYH11):c.5737A>C (p.Ser1913Arg) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Dec 4, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001183828.6

Allele description [Variation Report for NM_002474.3(MYH11):c.5737A>C (p.Ser1913Arg)]

NM_002474.3(MYH11):c.5737A>C (p.Ser1913Arg)

Genes:
MYH11:myosin heavy chain 11 [Gene - OMIM - HGNC]
NDE1:nudE neurodevelopment protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.11
Genomic location:
Preferred name:
NM_002474.3(MYH11):c.5737A>C (p.Ser1913Arg)
HGVS:
  • NC_000016.10:g.15714958T>G
  • NG_009299.1:g.147073A>C
  • NG_021210.1:g.76692T>G
  • NM_001040113.2:c.5758A>C
  • NM_001040114.2:c.5758A>C
  • NM_001143979.2:c.948-9233T>G
  • NM_002474.3:c.5737A>CMANE SELECT
  • NM_017668.3:c.948-9233T>GMANE SELECT
  • NM_022844.3:c.5737A>C
  • NP_001035202.1:p.Ser1920Arg
  • NP_001035203.1:p.Ser1920Arg
  • NP_002465.1:p.Ser1913Arg
  • NP_074035.1:p.Ser1913Arg
  • LRG_1401t1:c.5737A>C
  • LRG_1401t2:c.5758A>C
  • LRG_1401:g.147073A>C
  • LRG_1401p1:p.Ser1913Arg
  • LRG_1401p2:p.Ser1920Arg
  • NC_000016.9:g.15808815T>G
  • NC_000016.9:g.15808815T>G
  • NM_001040113.1:c.5758A>C
  • NM_002474.2:c.5737A>C
Protein change:
S1913R
Links:
dbSNP: rs760586766
NCBI 1000 Genomes Browser:
rs760586766
Molecular consequence:
  • NM_001143979.2:c.948-9233T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_017668.3:c.948-9233T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001040113.2:c.5758A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001040114.2:c.5758A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002474.3:c.5737A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022844.3:c.5737A>C - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001349670Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 4, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002649674Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 5, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001349670.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the coiled coil myosin tail domain of the MYH11 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.

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

From Ambry Genetics, SCV002649674.2

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

Description

The p.S1913R variant (also known as c.5737A>C), located in coding exon 39 of the MYH11 gene, results from an A to C substitution at nucleotide position 5737. The serine at codon 1913 is replaced by arginine, an amino acid with dissimilar 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: Sep 29, 2024