NM_002474.3(MYH11):c.5585G>A (p.Arg1862His) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Oct 19, 2020
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:: RCV000776147.13

Allele description [Variation Report for NM_002474.3(MYH11):c.5585G>A (p.Arg1862His)]

NM_002474.3(MYH11):c.5585G>A (p.Arg1862His)

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.5585G>A (p.Arg1862His)

Other names:

p.R1862H:CGC>CAC

HGVS:

NC_000016.10:g.15715192C>T
NG_009299.1:g.146839G>A
NG_021210.1:g.76926C>T
NM_001040113.2:c.5606G>A
NM_001040114.2:c.5606G>A
NM_001143979.2:c.948-8999C>T
NM_002474.3:c.5585G>AMANE SELECT
NM_017668.3:c.948-8999C>TMANE SELECT
NM_022844.3:c.5585G>A
NP_001035202.1:p.Arg1869His
NP_001035203.1:p.Arg1869His
NP_002465.1:p.Arg1862His
NP_074035.1:p.Arg1862His
LRG_1401t1:c.5585G>A
LRG_1401t2:c.5606G>A
LRG_1401:g.146839G>A
LRG_1401p1:p.Arg1862His
LRG_1401p2:p.Arg1869His
NC_000016.9:g.15809049C>T
NM_001040113.1:c.5606G>A
NM_001143979.1:c.948-8999C>T
NM_002474.2:c.5585G>A

Protein change:

R1862H

Links:

dbSNP: rs146228576

NCBI 1000 Genomes Browser:

rs146228576

Molecular consequence:

NM_001143979.2:c.948-8999C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_017668.3:c.948-8999C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001040113.2:c.5606G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001040114.2:c.5606G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002474.3:c.5585G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_022844.3:c.5585G>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

Recent activity

Clear Turn Off Turn On

Synthetic construct Xenopus tropicalis clone CCSB_Xt31042F04 hydroxyacylglutathi...
Synthetic construct Xenopus tropicalis clone CCSB_Xt31042F04 hydroxyacylglutathione hydrolase protein (hagh) gene, encodes complete protein
gi|2186856937|gb|OM114621.1|

Nucleotide
AU022579 expressed sequence AU022579 [Mus musculus]
AU022579 expressed sequence AU022579 [Mus musculus]
Gene ID:104510

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000739196	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Oct 19, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 26436109, 28679693, 30122538 Citation Link,
SCV000911145	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Apr 7, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001333415	CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Mar 23, 2018)	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

SCV000739196

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Oct 19, 2020)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link,

SCV000911145

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Apr 7, 2018)

germline

clinical testing

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

SCV001333415

CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Mar 23, 2018)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Actionable clinical decisions based on comprehensive genomic evaluation in asymptomatic adults.

Pillar N, Isakov O, Weissglas-Volkov D, Botchan S, Friedman E, Arber N, Shomron N.

Mol Genet Genomic Med. 2015 Sep;3(5):433-9. doi: 10.1002/mgg3.154. Epub 2015 May 6.

PubMed [citation]

PMID:: 26436109
PMCID:: PMC4585451

Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling.

Cousin MA, Zimmermann MT, Mathison AJ, Blackburn PR, Boczek NJ, Oliver GR, Lomberk GA, Urrutia RA, Deyle DR, Klee EW.

Cold Spring Harb Mol Case Stud. 2017 Jul 5;3(4). doi:pii: a001727. 10.1101/mcs.a001727. Print 2017 Jul.

PubMed [citation]

PMID:: 28679693
PMCID:: PMC5495030

See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000739196.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

From Color Diagnostics, LLC DBA Color Health, SCV000911145.1

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

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

From CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario, SCV001333415.1

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

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

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine