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NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Aug 9, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000197944.7

Allele description [Variation Report for NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys)]

NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys)

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.1582C>T (p.Arg528Cys)
Other names:
p.R528C:CGT>TGT
HGVS:
  • NC_000003.12:g.30691477C>T
  • NG_007490.1:g.89976C>T
  • NM_001024847.3:c.1657C>T
  • NM_001407126.1:c.1765C>T
  • NM_001407127.1:c.1690C>T
  • NM_001407128.1:c.1609C>T
  • NM_001407129.1:c.1585C>T
  • NM_001407130.1:c.1579C>T
  • NM_001407132.1:c.1477C>T
  • NM_001407133.1:c.1477C>T
  • NM_001407134.1:c.1477C>T
  • NM_001407135.1:c.1477C>T
  • NM_001407136.1:c.1477C>T
  • NM_001407137.1:c.1297C>T
  • NM_001407138.1:c.1222C>T
  • NM_001407139.1:c.712C>T
  • NM_003242.6:c.1582C>TMANE SELECT
  • NP_001020018.1:p.Arg553Cys
  • NP_001020018.1:p.Arg553Cys
  • NP_001394055.1:p.Arg589Cys
  • NP_001394056.1:p.Arg564Cys
  • NP_001394057.1:p.Arg537Cys
  • NP_001394058.1:p.Arg529Cys
  • NP_001394059.1:p.Arg527Cys
  • NP_001394061.1:p.Arg493Cys
  • NP_001394062.1:p.Arg493Cys
  • NP_001394063.1:p.Arg493Cys
  • NP_001394064.1:p.Arg493Cys
  • NP_001394065.1:p.Arg493Cys
  • NP_001394066.1:p.Arg433Cys
  • NP_001394067.1:p.Arg408Cys
  • NP_001394068.1:p.Arg238Cys
  • NP_003233.4:p.Arg528Cys
  • LRG_779t1:c.1657C>T
  • LRG_779t2:c.1582C>T
  • LRG_779:g.89976C>T
  • LRG_779p1:p.Arg553Cys
  • LRG_779p2:p.Arg528Cys
  • NC_000003.11:g.30732969C>T
  • NM_001024847.2:c.1657C>T
  • NM_003242.5:c.1582C>T
  • P37173:p.Arg528Cys
Protein change:
R238C; ARG528CYS
Links:
UniProtKB: P37173#VAR_022360; OMIM: 190182.0012; dbSNP: rs104893810
NCBI 1000 Genomes Browser:
rs104893810
Molecular consequence:
  • NM_001024847.3:c.1657C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407126.1:c.1765C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407127.1:c.1690C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407128.1:c.1609C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407129.1:c.1585C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407130.1:c.1579C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407132.1:c.1477C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407133.1:c.1477C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407134.1:c.1477C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407135.1:c.1477C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407136.1:c.1477C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407137.1:c.1297C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407138.1:c.1222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407139.1:c.712C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003242.6:c.1582C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000250954GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Aug 9, 2021) 		germlineclinical testing

Citation Link,

SCV000927232Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)		Pathogenic
(Apr 16, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000250954.13

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported in ClinVar as pathogenic (ClinVar Variant ID# 12512; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies demonstrate that this variant results in decreased protein expression and has a dominant-negative effect on TGF-beta induced Smad and ERK signalling (Horbelt et al., 2010); Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27535533, 33436942, 32352226, 31447099, 21098638, 22734312, 20144264, 18781618, 16928994, 19875893, 15731757, 23884466, 17330129)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Blueprint Genetics, SCV000927232.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024