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NM_003239.5(TGFB3):c.886_893dup (p.Lys298fs) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 4, 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:
RCV002314910.9

Allele description [Variation Report for NM_003239.5(TGFB3):c.886_893dup (p.Lys298fs)]

NM_003239.5(TGFB3):c.886_893dup (p.Lys298fs)

Gene:
TGFB3:transforming growth factor beta 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
14q24.3
Genomic location:
Preferred name:
NM_003239.5(TGFB3):c.886_893dup (p.Lys298fs)
HGVS:
  • NC_000014.9:g.75963349_75963356dup
  • NG_011715.1:g.23394_23401dup
  • NM_001329938.2:c.886_893dup
  • NM_001329939.2:c.886_893dup
  • NM_003239.5:c.886_893dupMANE SELECT
  • NP_001316867.1:p.Lys298fs
  • NP_001316868.1:p.Lys298fs
  • NP_003230.1:p.Lys298fs
  • LRG_399:g.23394_23401dup
  • NC_000014.8:g.76429691_76429692insTTCCTCTG
  • NC_000014.8:g.76429692_76429699dup
  • NM_003239.2:c.886_893dupCAGAGGAA
Protein change:
K298fs
Links:
dbSNP: rs1555360368
NCBI 1000 Genomes Browser:
rs1555360368
Molecular consequence:
  • NM_001329938.2:c.886_893dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001329939.2:c.886_893dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003239.5:c.886_893dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000739727Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Apr 4, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000739727.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.886_893dupCAGAGGAA variant, located in coding exon 5 of the TGFB3 gene, results from a duplication of CAGAGGAA at nucleotide position 886, causing a translational frameshift with a predicted alternate stop codon (p.K298Nfs*74). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. While loss of function has not yet been clearly established as a mechanism of disease for TGFB3, alterations resulting in haploinsufficiency have been reported in patients with features consistent with manifestations of Loeys-Dietz syndrome (Schepers D et al. Hum Mutat. 2018;39(5):621-634; Ambry internal data). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: Nov 3, 2024