U.S. flag

An official website of the United States government

NM_003238.6(TGFB2):c.1244A>T (p.Ter415Leu) AND Loeys-Dietz syndrome 4

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 28, 2023
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:
RCV003648304.1

Allele description

NM_003238.6(TGFB2):c.1244A>T (p.Ter415Leu)

Gene:
TGFB2:transforming growth factor beta 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_003238.6(TGFB2):c.1244A>T (p.Ter415Leu)
HGVS:
  • NC_000001.11:g.218441361A>T
  • NG_027721.2:g.101028A>T
  • NG_027721.3:g.101027A>T
  • NM_001135599.4:c.1328A>T
  • NM_003238.6:c.1244A>TMANE SELECT
  • NP_001129071.1:p.Ter443Leu
  • NP_003229.1:p.Ter415Leu
  • NC_000001.10:g.218614703A>T
  • NR_138148.2:n.2495A>T
  • NR_138149.2:n.2579A>T
Molecular consequence:
  • NR_138148.2:n.2495A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_138149.2:n.2579A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001135599.4:c.1328A>T - stop lost - [Sequence Ontology: SO:0001578]
  • NM_003238.6:c.1244A>T - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Name:
Loeys-Dietz syndrome 4 (LDS4)
Synonyms:
ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
Identifiers:
MONDO: MONDO:0013897; MedGen: C3553762; OMIM: 614816

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004428689Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jan 28, 2023) 		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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV004428689.1

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with TGFB2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change disrupts the translational stop signal of the TGFB2 mRNA. It is expected to extend the length of the TGFB2 protein by 39 additional amino acid residues.

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

Last Updated: Feb 28, 2024