NM_001130144.3(LTBP3):c.430G>A (p.Ala144Thr) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 18, 2021
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:: RCV002331600.2

Allele description [Variation Report for NM_001130144.3(LTBP3):c.430G>A (p.Ala144Thr)]

NM_001130144.3(LTBP3):c.430G>A (p.Ala144Thr)

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.430G>A (p.Ala144Thr)

HGVS:

NC_000011.10:g.65554282C>T
NG_016437.1:g.8947G>A
NM_001130144.3:c.430G>AMANE SELECT
NM_001164266.1:c.79G>A
NM_021070.4:c.430G>A
NP_001123616.1:p.Ala144Thr
NP_001157738.1:p.Ala27Thr
NP_066548.2:p.Ala144Thr
NC_000011.9:g.65321753C>T
NM_001130144.2:c.430G>A

Protein change:

A144T

Links:

dbSNP: rs181842110

NCBI 1000 Genomes Browser:

rs181842110

Molecular consequence:

NM_001130144.3:c.430G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001164266.1:c.79G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_021070.4:c.430G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002626779	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 18, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002626779

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 18, 2021)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV002626779.2

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

Description

The p.A144T variant (also known as c.430G>A), located in coding exon 2 of the LTBP3 gene, results from a G to A substitution at nucleotide position 430. The alanine at codon 144 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Sep 29, 2024

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