U.S. flag

An official website of the United States government

NM_001130144.3(LTBP3):c.3628G>C (p.Asp1210His) AND Brachyolmia-amelogenesis imperfecta syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 6, 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:
RCV001975402.6

Allele description [Variation Report for NM_001130144.3(LTBP3):c.3628G>C (p.Asp1210His)]

NM_001130144.3(LTBP3):c.3628G>C (p.Asp1210His)

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.3628G>C (p.Asp1210His)
HGVS:
  • NC_000011.10:g.65539548C>G
  • NG_016437.1:g.23681G>C
  • NG_047172.1:g.19484C>G
  • NM_001130144.3:c.3628G>CMANE SELECT
  • NM_001164266.1:c.3136G>C
  • NM_021070.4:c.3487G>C
  • NP_001123616.1:p.Asp1210His
  • NP_001157738.1:p.Asp1046His
  • NP_066548.2:p.Asp1163His
  • NC_000011.9:g.65307019C>G
Protein change:
D1046H
Links:
dbSNP: rs777097028
NCBI 1000 Genomes Browser:
rs777097028
Molecular consequence:
  • NM_001130144.3:c.3628G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164266.1:c.3136G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021070.4:c.3487G>C - missense variant - [Sequence Ontology: SO:0001583]

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

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002247677Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Apr 6, 2023)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

Buratti E, Chivers M, Královicová J, Romano M, Baralle M, Krainer AR, Vorechovsky I.

Nucleic Acids Res. 2007;35(13):4250-63. Epub 2007 Jun 18.

PubMed [citation]
PMID:
17576681
PMCID:
PMC1934990

Statistical features of human exons and their flanking regions.

Zhang MQ.

Hum Mol Genet. 1998 May;7(5):919-32.

PubMed [citation]
PMID:
9536098
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002247677.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 1210 of the LTBP3 protein (p.Asp1210His). This variant also falls at the last nucleotide of exon 26, which is part of the consensus splice site for this exon. This variant is present in population databases (rs777097028, gnomAD 0.2%). 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1464248). This variant has not been reported in the literature in individuals affected with LTBP3-related conditions.

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

Last Updated: Sep 29, 2024