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NM_001130144.3(LTBP3):c.3840C>A (p.Phe1280Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 21, 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:
RCV004640220.1

Allele description [Variation Report for NM_001130144.3(LTBP3):c.3840C>A (p.Phe1280Leu)]

NM_001130144.3(LTBP3):c.3840C>A (p.Phe1280Leu)

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.3840C>A (p.Phe1280Leu)
HGVS:
  • NC_000011.10:g.65539152G>T
  • NG_016437.1:g.24077C>A
  • NG_047172.1:g.19088G>T
  • NM_001130144.3:c.3840C>AMANE SELECT
  • NM_001164266.1:c.3348C>A
  • NM_021070.4:c.3699C>A
  • NP_001123616.1:p.Phe1280Leu
  • NP_001157738.1:p.Phe1116Leu
  • NP_066548.2:p.Phe1233Leu
  • NC_000011.9:g.65306623G>T
  • NM_001130144.2:c.3840C>A
Protein change:
F1116L
Molecular consequence:
  • NM_001130144.3:c.3840C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164266.1:c.3348C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021070.4:c.3699C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005136920Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 21, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005136920.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.F1280L variant (also known as c.3840C>A), located in coding exon 28 of the LTBP3 gene, results from a C to A substitution at nucleotide position 3840. The phenylalanine at codon 1280 is replaced by leucine, an amino acid with highly 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 variant remains unclear.

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

Last Updated: Aug 11, 2024