NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:: Benign (3 submissions)
Last evaluated:: Feb 5, 2024
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:: RCV000242975.16

Allele description [Variation Report for NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala)]

NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala)

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.3866T>C (p.Val1289Ala)

Other names:

p.V1289A:GTT>GCT

HGVS:

NC_000016.10:g.15724985A>G
NG_009299.1:g.137046T>C
NG_021210.1:g.86719A>G
NM_001040113.2:c.3887T>C
NM_001040114.2:c.3887T>C
NM_001143979.2:c.*734A>G
NM_002474.3:c.3866T>CMANE SELECT
NM_017668.3:c.*734A>GMANE SELECT
NM_022844.3:c.3866T>C
NP_001035202.1:p.Val1296Ala
NP_001035203.1:p.Val1296Ala
NP_001035203.1:p.Val1296Ala
NP_002465.1:p.Val1289Ala
NP_074035.1:p.Val1289Ala
LRG_1401t1:c.3866T>C
LRG_1401t2:c.3887T>C
LRG_1401:g.137046T>C
LRG_1401p1:p.Val1289Ala
LRG_1401p2:p.Val1296Ala
NC_000016.9:g.15818842A>G
NM_001040113.1:c.3887T>C
NM_001040114.1:c.3887T>C
NM_001143979.1:c.*734A>G
NM_002474.2:c.3866T>C
P35749:p.Val1289Ala

Protein change:

V1289A

Links:

UniProtKB: P35749#VAR_030240; dbSNP: rs16967510

NCBI 1000 Genomes Browser:

rs16967510

Molecular consequence:

NM_001143979.2:c.*734A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_017668.3:c.*734A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001040113.2:c.3887T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001040114.2:c.3887T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002474.3:c.3866T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_022844.3:c.3866T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

11364

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
SCV000317340	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Benign (Jun 19, 2015)	germline	clinical testing	Citation Link,
SCV000910547	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Mar 7, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004821289	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Feb 5, 2024)	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

SCV000317340

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Benign
(Jun 19, 2015)

germline

clinical testing

Citation Link,

SCV000910547

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Mar 7, 2018)

germline

clinical testing

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

SCV004821289

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Feb 5, 2024)

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	11364	not provided	not provided	108545	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 Ambry Genetics, SCV000317340.3

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

Description

General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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

From Color Diagnostics, LLC DBA Color Health, SCV000910547.1

#	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 All of Us Research Program, National Institutes of Health, SCV004821289.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	11363	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	108544	not provided	not provided		11363	not provided	not provided	not provided

Last Updated: Jun 9, 2024

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