NM_003238.6(TGFB2):c.302AGG[1] (p.Glu102del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 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:: RCV001586076.12

Allele description [Variation Report for NM_003238.6(TGFB2):c.302AGG[1] (p.Glu102del)]

NM_003238.6(TGFB2):c.302AGG[1] (p.Glu102del)

Gene:

TGFB2:transforming growth factor beta 2 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_003238.6(TGFB2):c.302AGG[1] (p.Glu102del)

HGVS:

NC_000001.11:g.218347003AGG[1]
NG_027721.2:g.6670AGG[1]
NM_001135599.4:c.302AGG[1]
NM_003238.6:c.302AGG[1]MANE SELECT
NP_001129071.1:p.Glu102del
NP_003229.1:p.Glu102del
NC_000001.10:g.218520345AGG[1]
NC_000001.10:g.218520345_218520347del
NM_003238.3:c.305_307del
NR_138148.2:n.1668AGG[1]
NR_138149.2:n.1668AGG[1]

Protein change:

E102del

Links:

dbSNP: rs1656708526

NCBI 1000 Genomes Browser:

rs1656708526

Molecular consequence:

NM_001135599.4:c.302AGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_003238.6:c.302AGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_138148.2:n.1668AGG[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_138149.2:n.1668AGG[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001811113	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Aug 18, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001811113

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Aug 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001811113.2

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

Description

Identified in a patient with Loeys-Dietz syndrome in published literature (Schepers et al., 2018); Not observed in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; In-frame deletion of 1 amino acids in a non-repeat region; This variant is associated with the following publications: (PMID: 29392890)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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