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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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000317340Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))
Benign
(Jun 19, 2015)
germlineclinical testing

Citation Link,

SCV000910547Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(Mar 7, 2018)
germlineclinical testing

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

SCV004821289All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(Feb 5, 2024)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown11364not providednot provided108545not 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, SCV000317340.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

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

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided11363not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided11363not providednot providednot provided

Last Updated: Jul 7, 2024