NM_003242.6(TGFBR2):c.1016G>C (p.Arg339Pro) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 10, 2015
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:: RCV000152005.6

Allele description [Variation Report for NM_003242.6(TGFBR2):c.1016G>C (p.Arg339Pro)]

NM_003242.6(TGFBR2):c.1016G>C (p.Arg339Pro)

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.1016G>C (p.Arg339Pro)

HGVS:

NC_000003.12:g.30672199G>C
NG_007490.1:g.70698G>C
NM_001024847.3:c.1091G>C
NM_001407126.1:c.1199G>C
NM_001407127.1:c.1124G>C
NM_001407128.1:c.1043G>C
NM_001407129.1:c.1019G>C
NM_001407130.1:c.1016G>C
NM_001407132.1:c.911G>C
NM_001407133.1:c.911G>C
NM_001407134.1:c.911G>C
NM_001407135.1:c.911G>C
NM_001407136.1:c.911G>C
NM_001407137.1:c.731G>C
NM_001407138.1:c.656G>C
NM_003242.6:c.1016G>CMANE SELECT
NP_001020018.1:p.Arg364Pro
NP_001020018.1:p.Arg364Pro
NP_001394055.1:p.Arg400Pro
NP_001394056.1:p.Arg375Pro
NP_001394057.1:p.Arg348Pro
NP_001394058.1:p.Arg340Pro
NP_001394059.1:p.Arg339Pro
NP_001394061.1:p.Arg304Pro
NP_001394062.1:p.Arg304Pro
NP_001394063.1:p.Arg304Pro
NP_001394064.1:p.Arg304Pro
NP_001394065.1:p.Arg304Pro
NP_001394066.1:p.Arg244Pro
NP_001394067.1:p.Arg219Pro
NP_003233.4:p.Arg339Pro
LRG_779t1:c.1091G>C
LRG_779t2:c.1016G>C
LRG_779:g.70698G>C
LRG_779p1:p.Arg364Pro
LRG_779p2:p.Arg339Pro
NC_000003.11:g.30713691G>C
NM_001024847.2:c.1091G>C
NM_003242.5:c.1016G>C

Protein change:

R219P

Links:

dbSNP: rs727503473

NCBI 1000 Genomes Browser:

rs727503473

Molecular consequence:

NM_001024847.3:c.1091G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407126.1:c.1199G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407127.1:c.1124G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407128.1:c.1043G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407129.1:c.1019G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407130.1:c.1016G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407132.1:c.911G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407133.1:c.911G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407134.1:c.911G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407135.1:c.911G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407136.1:c.911G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407137.1:c.731G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407138.1:c.656G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003242.6:c.1016G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000200570	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Nov 10, 2015)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24793577, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000200570

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Nov 10, 2015)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD).

Lerner-Ellis JP, Aldubayan SH, Hernandez AL, Kelly MA, Stuenkel AJ, Walsh J, Joshi VA.

Mol Genet Metab. 2014 Jun;112(2):171-6. doi: 10.1016/j.ymgme.2014.03.011. Epub 2014 Apr 2.

PubMed [citation]

PMID:: 24793577

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, SCV000200570.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

proposed classification - variant undergoing re-assessment, contact laboratory

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Mar 16, 2024

ClinVar

Relating variation to medicine