NM_001130144.3(LTBP3):c.2155G>A (p.Glu719Lys) AND Brachyolmia-amelogenesis imperfecta syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 19, 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:: RCV003755506.4

Allele description [Variation Report for NM_001130144.3(LTBP3):c.2155G>A (p.Glu719Lys)]

NM_001130144.3(LTBP3):c.2155G>A (p.Glu719Lys)

Genes:

LOC130006030:ATAC-STARR-seq lymphoblastoid silent region 3533 [Gene]
LTBP3:latent transforming growth factor beta binding protein 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.1

Genomic location:

Preferred name:

NM_001130144.3(LTBP3):c.2155G>A (p.Glu719Lys)

HGVS:

NC_000011.10:g.65546873C>T
NG_016437.1:g.16356G>A
NG_185475.1:g.383C>T
NM_001130144.3:c.2155G>AMANE SELECT
NM_001164266.1:c.1804G>A
NM_021070.4:c.2155G>A
NP_001123616.1:p.Glu719Lys
NP_001157738.1:p.Glu602Lys
NP_066548.2:p.Glu719Lys
NC_000011.9:g.65314344C>T

Protein change:

E602K

Links:

dbSNP: rs772542139

NCBI 1000 Genomes Browser:

rs772542139

Molecular consequence:

NM_001130144.3:c.2155G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001164266.1:c.1804G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_021070.4:c.2155G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Brachyolmia-amelogenesis imperfecta syndrome
Synonyms:: PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA; Tooth agenesis, selective, 6; Dental anomalies and short stature
Identifiers:: MONDO: MONDO:0011018; MedGen: C1832594; Orphanet: 2899; OMIM: 601216

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004489606	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (May 19, 2023)	germline	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

SCV004489606

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(May 19, 2023)

germline

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	germline	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, SCV004489606.2

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

Description

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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant¬¨‚Ä† is likely to be tolerated. This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 719 of the LTBP3 protein (p.Glu719Lys).

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

Last Updated: May 16, 2025

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