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NM_001130144.3(LTBP3):c.3779_3813dup (p.Arg1272delinsSerTer) AND Brachyolmia-amelogenesis imperfecta syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 11, 2022
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:
RCV003059468.3

Allele description [Variation Report for NM_001130144.3(LTBP3):c.3779_3813dup (p.Arg1272delinsSerTer)]

NM_001130144.3(LTBP3):c.3779_3813dup (p.Arg1272delinsSerTer)

Gene:
LTBP3:latent transforming growth factor beta binding protein 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_001130144.3(LTBP3):c.3779_3813dup (p.Arg1272delinsSerTer)
HGVS:
  • NC_000011.10:g.65539183_65539217dup
  • NG_016437.1:g.24016_24050dup
  • NG_047172.1:g.19119_19153dup
  • NM_001130144.3:c.3779_3813dupMANE SELECT
  • NM_001164266.1:c.3287_3321dup
  • NM_021070.4:c.3638_3672dup
  • NP_001123616.1:p.Arg1272delinsSerTer
  • NP_001157738.1:p.Arg1108delinsSerTer
  • NP_066548.2:p.Arg1225delinsSerTer
  • NC_000011.9:g.65306649_65306650insCTCGCTCTTGCACAGCAGCCCGCGCTGGTTCAGCT
  • NC_000011.9:g.65306654_65306688dup
Molecular consequence:
  • NM_001130144.3:c.3779_3813dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001164266.1:c.3287_3321dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_021070.4:c.3638_3672dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Brachyolmia-amelogenesis imperfecta syndrome
Synonyms:
Verloes Bourguignon syndrome; Skeletal dysplasia with amelogenesis imperfecta and platyspondyly; Platyspondyly with amelogenesis imperfecta; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011018; MedGen: C1832594; Orphanet: 2899; OMIM: 601216

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003345117Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Jun 11, 2022)
germlineclinical testing

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

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV003345117.2

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

Description

This sequence change creates a premature translational stop signal (p.Arg1272Serfs*2) in the LTBP3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acid(s) of the LTBP3 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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

Last Updated: Sep 29, 2024