NM_002474.3(MYH11):c.5690A>C (p.Asn1897Thr) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 26, 2023
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:: RCV004014464.2

Allele description [Variation Report for NM_002474.3(MYH11):c.5690A>C (p.Asn1897Thr)]

NM_002474.3(MYH11):c.5690A>C (p.Asn1897Thr)

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.5690A>C (p.Asn1897Thr)

HGVS:

NC_000016.10:g.15715005T>G
NG_009299.1:g.147026A>C
NG_021210.1:g.76739T>G
NM_001040113.2:c.5711A>C
NM_001040114.2:c.5711A>C
NM_001143979.2:c.948-9186T>G
NM_002474.3:c.5690A>CMANE SELECT
NM_017668.3:c.948-9186T>GMANE SELECT
NM_022844.3:c.5690A>C
NP_001035202.1:p.Asn1904Thr
NP_001035203.1:p.Asn1904Thr
NP_002465.1:p.Asn1897Thr
NP_074035.1:p.Asn1897Thr
LRG_1401t1:c.5690A>C
LRG_1401t2:c.5711A>C
LRG_1401:g.147026A>C
LRG_1401p1:p.Asn1897Thr
LRG_1401p2:p.Asn1904Thr
NC_000016.9:g.15808862T>G

Protein change:

N1897T

Molecular consequence:

NM_001143979.2:c.948-9186T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_017668.3:c.948-9186T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001040113.2:c.5711A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001040114.2:c.5711A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002474.3:c.5690A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_022844.3:c.5690A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004826036	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (Jun 26, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004826036

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain Significance
(Jun 26, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	2	not provided	not provided	108544	not provided	clinical 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 All of Us Research Program, National Institutes of Health, SCV004826036.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (1)

Description

This missense variant replaces asparagine with threonine at codon 1904 of the MYH11 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, 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 been identified in 2/251294 chromosomes 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	108544	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Sep 1, 2024

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