U.S. flag

An official website of the United States government

NM_001130144.3(LTBP3):c.3839_3840delinsAA (p.Phe1280Ter) AND LTBP3-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 17, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003961101.2

Allele description [Variation Report for NM_001130144.3(LTBP3):c.3839_3840delinsAA (p.Phe1280Ter)]

NM_001130144.3(LTBP3):c.3839_3840delinsAA (p.Phe1280Ter)

Gene:
LTBP3:latent transforming growth factor beta binding protein 3 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_001130144.3(LTBP3):c.3839_3840delinsAA (p.Phe1280Ter)
HGVS:
  • NC_000011.10:g.65539152_65539153delinsTT
  • NG_016437.1:g.24076_24077delinsAA
  • NG_047172.1:g.19088_19089delinsTT
  • NM_001130144.2:c.3839_3840delinsAA
  • NM_001130144.3:c.3839_3840delinsAAMANE SELECT
  • NM_001164266.1:c.3347_3348delinsAA
  • NM_021070.4:c.3698_3699delinsAA
  • NP_001123616.1:p.Phe1280Ter
  • NP_001157738.1:p.Phe1116Ter
  • NP_066548.2:p.Phe1233Ter
  • NC_000011.9:g.65306623_65306624delinsTT
Protein change:
F1116*
Links:
dbSNP: rs2496108954
NCBI 1000 Genomes Browser:
rs2496108954
Molecular consequence:
  • NM_001130144.3:c.3839_3840delinsAA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001164266.1:c.3347_3348delinsAA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_021070.4:c.3698_3699delinsAA - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
LTBP3-related disorder
Synonyms:
LTBP3-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004784568PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Jan 17, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004784568.2

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

Description

The LTBP3 c.3839_3840delinsAA variant is predicted to result in premature protein termination (p.Phe1280*). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. While loss of function variants have been reported as causative in LTBP3, few such variants have been reported downstream of this variant. Therefore, it is unclear if this variant impacts protein function. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: May 16, 2025