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NM_003242.6(TGFBR2):c.-8G>A AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 24, 2012
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:
RCV000154463.5

Allele description [Variation Report for NM_003242.6(TGFBR2):c.-8G>A]

NM_003242.6(TGFBR2):c.-8G>A

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.-8G>A
HGVS:
  • NC_000003.12:g.30606876G>A
  • NG_007490.1:g.5375G>A
  • NM_001024847.3:c.-8G>A
  • NM_001407126.1:c.-8G>A
  • NM_001407127.1:c.-8G>A
  • NM_001407130.1:c.-8G>A
  • NM_001407133.1:c.-291G>A
  • NM_001407134.1:c.-169G>A
  • NM_001407135.1:c.-216G>A
  • NM_001407136.1:c.-301G>A
  • NM_001407137.1:c.-8G>A
  • NM_001407138.1:c.-8G>A
  • NM_001407139.1:c.-8G>A
  • NM_003242.6:c.-8G>AMANE SELECT
  • LRG_779t1:c.-8G>A
  • LRG_779t2:c.-8G>A
  • LRG_779:g.5375G>A
  • NC_000003.11:g.30648368G>A
  • NM_001024847.2:c.-8G>A
  • NM_003242.5:c.-8G>A
Links:
dbSNP: rs727504344
NCBI 1000 Genomes Browser:
rs727504344
Molecular consequence:
  • NM_003242.6:c.-8G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000204132Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Feb 24, 2012) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided21not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000204132.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Benign. The -8G>A variant ( TFGBR2) has not been reported in the literature but has been identified in one i ndividual with clinical features of Marfan syndrome (this individual's son). Th is variant is located in the 5' UTR 8 nucleotides upstream of the translation in itiation codon (ATG). Regulatory variation in the 5' and 3' UTR's could negative ly gene expression through reduced mRNA translation but this type of disease mec hanism has not been reported in Marfan or Loeys-Dietz syndromes. Although this data supports that the -8G>A variant may be benign, additional studies are neede d to fully assess its clinical significance. The clinical significance of this v ariant should be interpreted in the context of this individual's clinical manife station.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided1not provided

Last Updated: May 7, 2024