NM_001130144.3(LTBP3):c.2894C>T (p.Ala965Val) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 18, 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:: RCV003176534.2

Allele description [Variation Report for NM_001130144.3(LTBP3):c.2894C>T (p.Ala965Val)]

NM_001130144.3(LTBP3):c.2894C>T (p.Ala965Val)

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.2894C>T (p.Ala965Val)

HGVS:

NC_000011.10:g.65540954G>A
NG_016437.1:g.22275C>T
NG_075883.1:g.437G>A
NM_001130144.3:c.2894C>TMANE SELECT
NM_001164266.1:c.2543C>T
NM_021070.4:c.2894C>T
NP_001123616.1:p.Ala965Val
NP_001157738.1:p.Ala848Val
NP_066548.2:p.Ala965Val
NC_000011.9:g.65308425G>A
NM_001130144.2:c.2894C>T

Protein change:

A848V

Molecular consequence:

NM_001130144.3:c.2894C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001164266.1:c.2543C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_021070.4:c.2894C>T - 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
SCV003858596	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 18, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003858596

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 18, 2023)

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, SCV003858596.2

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

Description

The p.A965V variant (also known as c.2894C>T) is located in coding exon 21 of the LTBP3 gene. The alanine at codon 965 is replaced by valine, an amino acid with similar properties. This change occurs in the first base pair of coding exon 21. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. 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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