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NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000509415.2

Allele description [Variation Report for NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly)]

NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly)

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.412T>G (p.Cys138Gly)
Other names:
p.C138G:TGT>GGT
HGVS:
  • NC_000003.12:g.30650418T>G
  • NG_007490.1:g.48917T>G
  • NM_001024847.3:c.487T>G
  • NM_001407126.1:c.487T>G
  • NM_001407127.1:c.412T>G
  • NM_001407128.1:c.439T>G
  • NM_001407129.1:c.307T>G
  • NM_001407130.1:c.412T>G
  • NM_001407132.1:c.307T>G
  • NM_001407133.1:c.307T>G
  • NM_001407134.1:c.307T>G
  • NM_001407135.1:c.307T>G
  • NM_001407136.1:c.307T>G
  • NM_001407139.1:c.487T>G
  • NM_003242.6:c.412T>GMANE SELECT
  • NP_001020018.1:p.Cys163Gly
  • NP_001020018.1:p.Cys163Gly
  • NP_001394055.1:p.Cys163Gly
  • NP_001394056.1:p.Cys138Gly
  • NP_001394057.1:p.Cys147Gly
  • NP_001394058.1:p.Cys103Gly
  • NP_001394059.1:p.Cys138Gly
  • NP_001394061.1:p.Cys103Gly
  • NP_001394062.1:p.Cys103Gly
  • NP_001394063.1:p.Cys103Gly
  • NP_001394064.1:p.Cys103Gly
  • NP_001394065.1:p.Cys103Gly
  • NP_001394068.1:p.Cys163Gly
  • NP_003233.4:p.Cys138Gly
  • LRG_779t1:c.487T>G
  • LRG_779t2:c.412T>G
  • LRG_779:g.48917T>G
  • LRG_779p1:p.Cys163Gly
  • LRG_779p2:p.Cys138Gly
  • NC_000003.11:g.30691910T>G
  • NM_001024847.2:c.487T>G
  • NM_003242.5:c.412T>G
Protein change:
C103G
Links:
dbSNP: rs863223838
NCBI 1000 Genomes Browser:
rs863223838
Molecular consequence:
  • NM_001024847.3:c.487T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407126.1:c.487T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407127.1:c.412T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407128.1:c.439T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407129.1:c.307T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407130.1:c.412T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407132.1:c.307T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407133.1:c.307T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407134.1:c.307T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407135.1:c.307T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407136.1:c.307T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407139.1:c.487T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003242.6:c.412T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital aneurysm of ascending aorta (AAT1)
Synonyms:
AORTIC ANEURYSM, FAMILIAL THORACIC 1; Familial aortic dissection; Annuloaortic ectasia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0024559; MedGen: C0345050; Orphanet: 229; OMIM: 607086
Name:
Loeys-Dietz syndrome (LDS)
Identifiers:
MONDO: MONDO:0018954; MedGen: C2697932; OMIM: PS609192

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000607137GenomeConnect, ClinGen
no classification provided
not providedunknown, maternalphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedphenotyping only
not providedmaternalunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000607137.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided
2not provided1not providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providedvalidation1not providednot providednot provided
2maternalunknown1not providedvalidation1not providednot providednot provided

Last Updated: May 1, 2024