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NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Sep 29, 2023
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:
RCV000195915.7

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]
Observations:
3

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
SCV000250924GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Sep 29, 2023) 		germlineclinical testing

Citation Link,

SCV002502443AiLife Diagnostics, AiLife Diagnostics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 28, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From GeneDx, SCV000250924.15

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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

From AiLife Diagnostics, AiLife Diagnostics, SCV002502443.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: May 1, 2024