NM_003242.6(TGFBR2):c.-193G>A AND Diabetic retinopathy

Germline classification:: Uncertain risk allele (1 submission)
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:: RCV004021906.1

Allele description [Variation Report for NM_003242.6(TGFBR2):c.-193G>A]

NM_003242.6(TGFBR2):c.-193G>A

Genes:

LOC129936399:ATAC-STARR-seq lymphoblastoid silent region 14158 [Gene]
TGFBR2:transforming growth factor beta receptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p24.1

Genomic location:

Preferred name:

NM_003242.6(TGFBR2):c.-193G>A

HGVS:

NC_000003.12:g.30606691G>A
NG_007490.1:g.5190G>A
NM_001024847.3:c.-193G>A
NM_001407126.1:c.-193G>A
NM_001407127.1:c.-193G>A
NM_001407130.1:c.-193G>A
NM_001407133.1:c.-476G>A
NM_001407134.1:c.-354G>A
NM_001407135.1:c.-401G>A
NM_001407136.1:c.-486G>A
NM_001407137.1:c.-193G>A
NM_001407138.1:c.-193G>A
NM_001407139.1:c.-193G>A
NM_003242.6:c.-193G>AMANE SELECT
LRG_779t1:c.-193G>A
LRG_779t2:c.-193G>A
LRG_779:g.5190G>A
NC_000003.11:g.30648183G>A
NM_001024847.2:c.-193G>A
NM_003242.5:c.-193G>A

Links:

dbSNP: rs886058301

NCBI 1000 Genomes Browser:

rs886058301

Molecular consequence:

NM_003242.6:c.-193G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:: Diabetic retinopathy
Identifiers:: MONDO: MONDO:0005266; MedGen: C0011884

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005016456	Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	criteria provided, single submitter (K And H Uppaluri Personalized Medicine Clinic Variant Classification And Assertion Criteria Updated V 2)	Uncertain risk allele	unknown	research	PubMed (3) [See all records that cite these PMIDs] 30222965, 28162229, 34572573 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005016456

Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

criteria provided, single submitter

(K And H Uppaluri Personalized Medicine Clinic Variant Classification And Assertion Criteria Updated V 2)

Uncertain risk allele

unknown

research

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Computational systems biology approach to identify novel pharmacological targets for diabetic retinopathy.

Platania CBM, Leggio GM, Drago F, Salomone S, Bucolo C.

Biochem Pharmacol. 2018 Dec;158:13-26. doi: 10.1016/j.bcp.2018.09.016. Epub 2018 Sep 15.

PubMed [citation]

PMID:: 30222965

The Increased Transforming Growth Factor-β Signaling Induced by Diabetes Protects Retinal Vessels.

Dagher Z, Gerhardinger C, Vaz J, Goodridge M, Tecilazich F, Lorenzi M.

Am J Pathol. 2017 Mar;187(3):627-638. doi: 10.1016/j.ajpath.2016.11.007. Epub 2017 Feb 2.

PubMed [citation]

PMID:: 28162229
PMCID:: PMC5397667

See all PubMed Citations (3)

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV005016456.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (3)

Description

Potent mutations in TGFBR2 gene encodes the transforming growth factor that have been associated with angiogenesis and diabetic retinopathy. More clinical studies are needed for stronger association. However, more evidence is required to confer the association of this particular variant rs886058301 with diabetic retinopathy.

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

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine