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NM_002474.3(MYH11):c.4899C>T (p.Ala1633=) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Likely benign (3 submissions)
Last evaluated:
Nov 30, 2023
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:
RCV001188868.14

Allele description [Variation Report for NM_002474.3(MYH11):c.4899C>T (p.Ala1633=)]

NM_002474.3(MYH11):c.4899C>T (p.Ala1633=)

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.4899C>T (p.Ala1633=)
HGVS:
  • NC_000016.10:g.15720205G>A
  • NG_009299.1:g.141826C>T
  • NG_021210.1:g.81939G>A
  • NM_001040113.2:c.4920C>T
  • NM_001040114.2:c.4920C>T
  • NM_001143979.2:c.948-3986G>A
  • NM_002474.3:c.4899C>TMANE SELECT
  • NM_017668.3:c.948-3986G>AMANE SELECT
  • NM_022844.3:c.4899C>T
  • NP_001035202.1:p.Ala1640=
  • NP_001035203.1:p.Ala1640=
  • NP_002465.1:p.Ala1633=
  • NP_074035.1:p.Ala1633=
  • LRG_1401t1:c.4899C>T
  • LRG_1401t2:c.4920C>T
  • LRG_1401:g.141826C>T
  • LRG_1401p1:p.Ala1633=
  • LRG_1401p2:p.Ala1640=
  • NC_000016.9:g.15814062G>A
  • NM_001040113.1:c.4920C>T
  • NM_001143979.1:c.948-3986G>A
  • NM_002474.2:c.4899C>T
Links:
dbSNP: rs760584464
NCBI 1000 Genomes Browser:
rs760584464
Molecular consequence:
  • NM_001143979.2:c.948-3986G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_017668.3:c.948-3986G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001040113.2:c.4920C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001040114.2:c.4920C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002474.3:c.4899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_022844.3:c.4899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
5

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
SCV001356026Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely benign
(Nov 12, 2019)
germlineclinical testing

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

SCV004001224Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Likely benign
(May 7, 2023)
germlineclinical testing

Citation Link,

SCV004821162All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely Benign
(Nov 30, 2023)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown5not providednot provided108544not 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 Color Diagnostics, LLC DBA Color Health, SCV001356026.1

#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 Ambry Genetics, SCV004001224.2

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

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.

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

From All of Us Research Program, National Institutes of Health, SCV004821162.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided5not providednot providednot provided

Last Updated: Jul 15, 2024