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NM_004612.4(TGFBR1):c.487del (p.Asp163fs) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 21, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001187461.3

Allele description [Variation Report for NM_004612.4(TGFBR1):c.487del (p.Asp163fs)]

NM_004612.4(TGFBR1):c.487del (p.Asp163fs)

Gene:
TGFBR1:transforming growth factor beta receptor 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q22.33
Genomic location:
Preferred name:
NM_004612.4(TGFBR1):c.487del (p.Asp163fs)
HGVS:
  • NC_000009.12:g.99132652del
  • NG_007461.1:g.32523del
  • NM_001130916.3:c.343+3552del
  • NM_001306210.2:c.499del
  • NM_004612.4:c.487delMANE SELECT
  • NP_001293139.1:p.Asp167fs
  • NP_004603.1:p.Asp163fs
  • NC_000009.11:g.101894934del
Protein change:
D163fs
Links:
dbSNP: rs1827276619
NCBI 1000 Genomes Browser:
rs1827276619
Molecular consequence:
  • NM_001306210.2:c.499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004612.4:c.487del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130916.3:c.343+3552del - intron variant - [Sequence Ontology: SO:0001627]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001354279Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 21, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot 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, SCV001354279.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant of Uncertain Significance due to insufficient evidence: This variant deletes 1 nucleotide in exon 3 of the TGFBR1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The role of TGFBR2 truncation variants in cardiovascular disorders is not clearly established. Available evidence is insufficient to determine the role of this variant in disease conclusively.

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

Last Updated: Mar 16, 2024