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NM_002474.3(MYH11):c.2575G>A (p.Asp859Asn) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 16, 2021
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:
RCV002427497.2

Allele description [Variation Report for NM_002474.3(MYH11):c.2575G>A (p.Asp859Asn)]

NM_002474.3(MYH11):c.2575G>A (p.Asp859Asn)

Gene:
MYH11:myosin heavy chain 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.11
Genomic location:
Preferred name:
NM_002474.3(MYH11):c.2575G>A (p.Asp859Asn)
HGVS:
  • NC_000016.10:g.15741837C>T
  • NG_009299.1:g.120194G>A
  • NM_001040113.2:c.2596G>A
  • NM_001040114.2:c.2596G>A
  • NM_002474.3:c.2575G>AMANE SELECT
  • NM_022844.3:c.2575G>A
  • NP_001035202.1:p.Asp866Asn
  • NP_001035203.1:p.Asp866Asn
  • NP_002465.1:p.Asp859Asn
  • NP_074035.1:p.Asp859Asn
  • LRG_1401t1:c.2575G>A
  • LRG_1401t2:c.2596G>A
  • LRG_1401:g.120194G>A
  • LRG_1401p1:p.Asp859Asn
  • LRG_1401p2:p.Asp866Asn
  • NC_000016.9:g.15835694C>T
  • NM_001040113.1:c.2596G>A
  • NM_002474.2:c.2575G>A
  • NM_002474.3:c.2575G>A
Protein change:
D859N
Links:
dbSNP: rs2041282747
NCBI 1000 Genomes Browser:
rs2041282747
Molecular consequence:
  • NM_001040113.2:c.2596G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001040114.2:c.2596G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002474.3:c.2575G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022844.3:c.2575G>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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002743096Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 16, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002743096.2

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

Description

The p.D859N variant (also known as c.2575G>A), located in coding exon 20 of the MYH11 gene, results from a G to A substitution at nucleotide position 2575. The aspartic acid at codon 859 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not well conserved in available 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 alteration remains unclear.

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

Last Updated: Sep 29, 2024