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NM_001130144.3(LTBP3):c.132del (p.Pro45fs) AND Heritable Thoracic Aortic Disease

Germline classification:
confers sensitivity (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001291427.1

Allele description [Variation Report for NM_001130144.3(LTBP3):c.132del (p.Pro45fs)]

NM_001130144.3(LTBP3):c.132del (p.Pro45fs)

Gene:
LTBP3:latent transforming growth factor beta binding protein 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_001130144.3(LTBP3):c.132del (p.Pro45fs)
HGVS:
  • NC_000011.10:g.65557834del
  • NG_016437.1:g.5401del
  • NM_001130144.3:c.132delMANE SELECT
  • NM_001164266.1:c.-216del
  • NM_021070.4:c.132del
  • NP_001123616.1:p.Pro45fs
  • NP_001123616.1:p.Pro45fs
  • NP_066548.2:p.Pro45fs
  • NC_000011.9:g.65325305del
  • NM_001130144.2:c.132del
  • NM_001130144.2:c.132delG
  • NM_001130144.3:c.132del
Protein change:
P45fs
Links:
OMIM: 602090.0011; dbSNP: rs1286042594
NCBI 1000 Genomes Browser:
rs1286042594
Molecular consequence:
  • NM_001164266.1:c.-216del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001130144.3:c.132del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_021070.4:c.132del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Heritable Thoracic Aortic Disease
Identifiers:
MedGen: CN868256

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001479929University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
confers sensitivityinheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.

Guo DC, Regalado ES, Pinard A, Chen J, Lee K, Rigelsky C, Zilberberg L, Hostetler EM, Aldred M, Wallace SE, Prakash SK; University of Washington Center for Mendelian Genomics, Leal SM, Bamshad MJ, Nickerson DA, Natowicz M, Rifkin DB, Milewicz DM.

Am J Hum Genet. 2018 Apr 5;102(4):706-712. doi: 10.1016/j.ajhg.2018.03.002.

PubMed [citation]
PMID:
29625025
PMCID:
PMC5985335

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001479929.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025