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NM_017668.3(NDE1):c.948-5739G>A AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Benign (2 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:
RCV000261295.14

Allele description [Variation Report for NM_017668.3(NDE1):c.948-5739G>A]

NM_017668.3(NDE1):c.948-5739G>A

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_017668.3(NDE1):c.948-5739G>A
HGVS:
  • NC_000016.10:g.15718452G>A
  • NG_009299.1:g.143579C>T
  • NG_021210.1:g.80186G>A
  • NM_001040113.2:c.5193-14C>T
  • NM_001040114.2:c.5193-14C>T
  • NM_001143979.2:c.948-5739G>A
  • NM_002474.3:c.5172-14C>TMANE SELECT
  • NM_017668.3:c.948-5739G>AMANE SELECT
  • NM_022844.3:c.5172-14C>T
  • LRG_1401t1:c.5172-14C>T
  • LRG_1401t2:c.5193-14C>T
  • LRG_1401:g.143579C>T
  • NC_000016.9:g.15812309G>A
  • NM_001040113.1:c.5193-14C>T
  • NM_001040114.1:c.5193-14C>T
  • NM_001143979.1:c.948-5739G>A
  • NM_002474.2:c.5172-14C>T
Links:
dbSNP: rs34839877
NCBI 1000 Genomes Browser:
rs34839877
Molecular consequence:
  • NM_001040113.2:c.5193-14C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001040114.2:c.5193-14C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001143979.2:c.948-5739G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002474.3:c.5172-14C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_017668.3:c.948-5739G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022844.3:c.5172-14C>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
6218

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
SCV000902589Color 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]

SCV004822677All 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 providedgermlineunknown6218not 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, SCV000902589.1

#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, SCV004822677.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6218not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided6218not providednot providednot provided

Last Updated: Jul 15, 2024