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NM_002474.3(MYH11):c.5734G>C (p.Glu1912Gln) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Nov 20, 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:
RCV002347744.4

Allele description [Variation Report for NM_002474.3(MYH11):c.5734G>C (p.Glu1912Gln)]

NM_002474.3(MYH11):c.5734G>C (p.Glu1912Gln)

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.5734G>C (p.Glu1912Gln)
HGVS:
  • NC_000016.10:g.15714961C>G
  • NG_009299.1:g.147070G>C
  • NG_021210.1:g.76695C>G
  • NM_001040113.2:c.5755G>C
  • NM_001040114.2:c.5755G>C
  • NM_001143979.2:c.948-9230C>G
  • NM_002474.3:c.5734G>CMANE SELECT
  • NM_017668.3:c.948-9230C>GMANE SELECT
  • NM_022844.3:c.5734G>C
  • NP_001035202.1:p.Glu1919Gln
  • NP_001035203.1:p.Glu1919Gln
  • NP_002465.1:p.Glu1912Gln
  • NP_074035.1:p.Glu1912Gln
  • LRG_1401t1:c.5734G>C
  • LRG_1401t2:c.5755G>C
  • LRG_1401:g.147070G>C
  • LRG_1401p1:p.Glu1912Gln
  • LRG_1401p2:p.Glu1919Gln
  • NC_000016.9:g.15808818C>G
  • NM_002474.2:c.5734G>C
Protein change:
E1912Q
Molecular consequence:
  • NM_001143979.2:c.948-9230C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_017668.3:c.948-9230C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001040113.2:c.5755G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001040114.2:c.5755G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002474.3:c.5734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022844.3:c.5734G>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
SCV002648503Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 8, 2022) 		germlineclinical testing

Citation Link,

SCV004838208All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(Nov 20, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided108544not 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 Ambry Genetics, SCV002648503.2

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

Description

The p.E1912Q variant (also known as c.5734G>C), located in coding exon 39 of the MYH11 gene, results from a G to C substitution at nucleotide position 5734. The glutamic acid at codon 1912 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. 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

From All of Us Research Program, National Institutes of Health, SCV004838208.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

This missense variant replaces glutamic acid with glutamine at codon 1919 of the MYH11 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYH11-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided1not providednot providednot provided

Last Updated: Sep 1, 2024