NC_000011.9:g.(?_65319447)_(65320635_?)del AND Brachyolmia-amelogenesis imperfecta syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 22, 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:: RCV004580203.2

Allele description [Variation Report for NC_000011.9:g.(?_65319447)_(65320635_?)del]

NC_000011.9:g.(?_65319447)_(65320635_?)del

Gene:: LTBP3:latent transforming growth factor beta binding protein 3 [Gene - OMIM - HGNC]
Variant type:: Deletion
Cytogenetic location:: 11q13.1
Genomic location:: Chr11: 65319447 - 65320635 (on Assembly GRCh37)
Preferred name:: NC_000011.9:g.(?_65319447)_(65320635_?)del
HGVS:: NC_000011.9:g.(?_65319447)_(65320635_?)del
This HGVS expression did not pass validation

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

Recent activity

Clear Turn Off Turn On

Satellite Imagery
Satellite Imagery
Composition of images of EARTH or other planets from data collected during SPACE FLIGHT by remote sensing instruments onboard SPACECRAFT. The satellite sensor systems measure ...<br/>Year introduced: 2014

MeSH
Mountaineering
Mountaineering
A sport involving mountain climbing techniques.<br/>

MeSH
Youth Sports
Youth Sports
SPORTS activities designed and/or organized for CHILDREN or YOUTH.<br/>Year introduced: 2016

MeSH

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005064206	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Mar 22, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005064206

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Mar 22, 2023)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV005064206.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant results in the deletion of c.1063_1527del of the LTBP3 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine