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NM_003238.6(TGFB2):c.329_330dup (p.Phe111fs) AND Loeys-Dietz syndrome 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 31, 2021
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:
RCV001898256.3

Allele description [Variation Report for NM_003238.6(TGFB2):c.329_330dup (p.Phe111fs)]

NM_003238.6(TGFB2):c.329_330dup (p.Phe111fs)

Gene:
TGFB2:transforming growth factor beta 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_003238.6(TGFB2):c.329_330dup (p.Phe111fs)
HGVS:
  • NC_000001.11:g.218347030_218347031dup
  • NG_027721.2:g.6697_6698dup
  • NM_001135599.4:c.329_330dup
  • NM_003238.6:c.329_330dupMANE SELECT
  • NP_001129071.1:p.Phe111fs
  • NP_003229.1:p.Phe111fs
  • NC_000001.10:g.218520370_218520371insCC
  • NC_000001.10:g.218520372_218520373dup
  • NR_138148.2:n.1695_1696dup
  • NR_138149.2:n.1695_1696dup
Protein change:
F111fs
Links:
dbSNP: rs2102527910
NCBI 1000 Genomes Browser:
rs2102527910
Molecular consequence:
  • NM_001135599.4:c.329_330dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003238.6:c.329_330dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_138148.2:n.1695_1696dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_138149.2:n.1695_1696dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002160670Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 31, 2021) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.

Lindsay ME, Schepers D, Bolar NA, Doyle JJ, Gallo E, Fert-Bober J, Kempers MJ, Fishman EK, Chen Y, Myers L, Bjeda D, Oswald G, Elias AF, Levy HP, Anderlid BM, Yang MH, Bongers EM, Timmermans J, Braverman AC, Canham N, Mortier GR, Brunner HG, et al.

Nat Genet. 2012 Jul 8;44(8):922-7. doi: 10.1038/ng.2349.

PubMed [citation]
PMID:
22772368
PMCID:
PMC3616632

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.

Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, et al.

Nat Genet. 2012 Jul 8;44(8):916-21. doi: 10.1038/ng.2348.

PubMed [citation]
PMID:
22772371
PMCID:
PMC4033668
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV002160670.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TGFB2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe111Profs*36) in the TGFB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TGFB2 are known to be pathogenic (PMID: 22772368, 22772371, 30739908).

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

Last Updated: Feb 28, 2024