NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 4, 2013
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:
RCV000252297.2

Allele description [Variation Report for NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys)]

NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys)

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.1378C>T (p.Arg460Cys)
Other names:
p.R460C:CGC>TGC
HGVS:
  • NC_000003.12:g.30674228C>T
  • NG_007490.1:g.72727C>T
  • NM_001024847.3:c.1453C>T
  • NM_001407126.1:c.1561C>T
  • NM_001407127.1:c.1486C>T
  • NM_001407128.1:c.1405C>T
  • NM_001407129.1:c.1381C>T
  • NM_001407130.1:c.1378C>T
  • NM_001407132.1:c.1273C>T
  • NM_001407133.1:c.1273C>T
  • NM_001407134.1:c.1273C>T
  • NM_001407135.1:c.1273C>T
  • NM_001407136.1:c.1273C>T
  • NM_001407137.1:c.1093C>T
  • NM_001407138.1:c.1018C>T
  • NM_003242.6:c.1378C>TMANE SELECT
  • NP_001020018.1:p.Arg485Cys
  • NP_001020018.1:p.Arg485Cys
  • NP_001394055.1:p.Arg521Cys
  • NP_001394056.1:p.Arg496Cys
  • NP_001394057.1:p.Arg469Cys
  • NP_001394058.1:p.Arg461Cys
  • NP_001394059.1:p.Arg460Cys
  • NP_001394061.1:p.Arg425Cys
  • NP_001394062.1:p.Arg425Cys
  • NP_001394063.1:p.Arg425Cys
  • NP_001394064.1:p.Arg425Cys
  • NP_001394065.1:p.Arg425Cys
  • NP_001394066.1:p.Arg365Cys
  • NP_001394067.1:p.Arg340Cys
  • NP_003233.4:p.Arg460Cys
  • LRG_779t1:c.1453C>T
  • LRG_779t2:c.1378C>T
  • LRG_779:g.72727C>T
  • LRG_779p1:p.Arg485Cys
  • LRG_779p2:p.Arg460Cys
  • NC_000003.11:g.30715720C>T
  • NM_001024847.2:c.1453C>T
  • NM_003242.5:c.1378C>T
  • P37173:p.Arg460Cys
Protein change:
R340C; ARG460CYS
Links:
UniProtKB: P37173#VAR_029760; OMIM: 190182.0014; dbSNP: rs104893811
NCBI 1000 Genomes Browser:
rs104893811
Molecular consequence:
  • NM_001024847.3:c.1453C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407126.1:c.1561C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407127.1:c.1486C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407128.1:c.1405C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407129.1:c.1381C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407130.1:c.1378C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407132.1:c.1273C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407133.1:c.1273C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407134.1:c.1273C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407135.1:c.1273C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407136.1:c.1273C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407137.1:c.1093C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407138.1:c.1018C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003242.6:c.1378C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000318324Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Pathogenic
(Feb 4, 2013) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.

Tran-Fadulu V, Pannu H, Kim DH, Vick GW 3rd, Lonsford CM, Lafont AL, Boccalandro C, Smart S, Peterson KL, Hain JZ, Willing MC, Coselli JS, LeMaire SA, Ahn C, Byers PH, Milewicz DM.

J Med Genet. 2009 Sep;46(9):607-13. doi: 10.1136/jmg.2008.062844. Epub 2009 Jun 18.

PubMed [citation]
PMID:
19542084

Details of each submission

From Ambry Genetics, SCV000318324.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: May 7, 2024