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NM_003242.6(TGFBR2):c.1A>G (p.Met1Val) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 4, 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:
RCV001179694.4

Allele description [Variation Report for NM_003242.6(TGFBR2):c.1A>G (p.Met1Val)]

NM_003242.6(TGFBR2):c.1A>G (p.Met1Val)

Gene:
TGFBR2:transforming growth factor beta receptor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p24.1
Genomic location:
Preferred name:
NM_003242.6(TGFBR2):c.1A>G (p.Met1Val)
HGVS:
  • NC_000003.12:g.30606884A>G
  • NG_007490.1:g.5383A>G
  • NM_001024847.3:c.1A>G
  • NM_001407126.1:c.1A>G
  • NM_001407127.1:c.1A>G
  • NM_001407130.1:c.1A>G
  • NM_001407133.1:c.-283A>G
  • NM_001407134.1:c.-161A>G
  • NM_001407135.1:c.-208A>G
  • NM_001407136.1:c.-293A>G
  • NM_001407137.1:c.1A>G
  • NM_001407138.1:c.1A>G
  • NM_001407139.1:c.1A>G
  • NM_003242.6:c.1A>GMANE SELECT
  • NP_001020018.1:p.Met1Val
  • NP_001020018.1:p.Met1Val
  • NP_001394055.1:p.Met1Val
  • NP_001394056.1:p.Met1Val
  • NP_001394059.1:p.Met1Val
  • NP_001394066.1:p.Met1Val
  • NP_001394067.1:p.Met1Val
  • NP_001394068.1:p.Met1Val
  • NP_003233.4:p.Met1Val
  • LRG_779t1:c.1A>G
  • LRG_779t2:c.1A>G
  • LRG_779:g.5383A>G
  • LRG_779p1:p.Met1Val
  • LRG_779p2:p.Met1Val
  • NC_000003.11:g.30648376A>G
  • NM_001024847.2:c.1A>G
  • NM_003242.5:c.1A>G
Protein change:
M1V
Links:
dbSNP: rs933114782
NCBI 1000 Genomes Browser:
rs933114782
Molecular consequence:
  • NM_003242.6:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001024847.3:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407126.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407127.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407130.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407137.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407138.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407139.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003242.6:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001344404Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 4, 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, SCV001344404.3

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

Description

Variant of Uncertain Significance due to insufficient evidence: This variant alters the translation initiation codon of the TGFBR2 mRNA. An alternate in-frame methionine downstream of the initiator methionine occurs at codon 35 in the extracellular domain, after the signal peptide sequence. This variant is expected to disrupt translation initiation and result in an absent or truncated protein product. 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 is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). The role of TGFBR2 truncations and other loss-of-function variants in cardiovascular disorders is not yet fully understood. 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: May 7, 2024