NM_001130144.3(LTBP3):c.3782T>C (p.Leu1261Pro) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 17, 2024
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:: RCV004525769.1

Allele description [Variation Report for NM_001130144.3(LTBP3):c.3782T>C (p.Leu1261Pro)]

NM_001130144.3(LTBP3):c.3782T>C (p.Leu1261Pro)

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.3782T>C (p.Leu1261Pro)

HGVS:

NC_000011.10:g.65539210A>G
NG_016437.1:g.24019T>C
NG_047172.1:g.19146A>G
NM_001130144.3:c.3782T>CMANE SELECT
NM_001164266.1:c.3290T>C
NM_021070.4:c.3641T>C
NP_001123616.1:p.Leu1261Pro
NP_001157738.1:p.Leu1097Pro
NP_066548.2:p.Leu1214Pro
NC_000011.9:g.65306681A>G
NM_001130144.2:c.3782T>C

Protein change:

L1097P

Molecular consequence:

NM_001130144.3:c.3782T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001164266.1:c.3290T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_021070.4:c.3641T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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RecName: Full=Acyl-coenzyme A amino acid N-acyltransferase 1
RecName: Full=Acyl-coenzyme A amino acid N-acyltransferase 1
gi|209572787|sp|A2AKK5.1|ACNT1_MOUS

Protein
Homo sapiens ReSE screen-validated silencer GRCh37_chr11:57235875-57236324 (LOC1...
Homo sapiens ReSE screen-validated silencer GRCh37_chr11:57235875-57236324 (LOC129662932) on chromosome 11
gi|2496843195|ref|NG_159938.1|

Nucleotide
acyl-coenzyme A amino acid N-acyltransferase 1 isoform X1 [Mus musculus]
acyl-coenzyme A amino acid N-acyltransferase 1 isoform X1 [Mus musculus]
gi|568926526|ref|XP_006537902.1|

Protein
Football
Football
A competitive team sport played on a rectangular field.This is the American version of the game. It does not include non-North American football (= SOCCER)....<br/>Year introduced: 1976

MeSH
Skating
Skating
Using ice skates, roller skates, or skateboards in racing or other competition or for recreation.<br/>Year introduced: 1990(1976)

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005038433	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 17, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005038433

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 17, 2024)

germline

clinical testing

Citation Link

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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, SCV005038433.1

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

Description

The p.L1261P variant (also known as c.3782T>C), located in coding exon 28 of the LTBP3 gene, results from a T to C substitution at nucleotide position 3782. The leucine at codon 1261 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, 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: May 7, 2024

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