NM_003242.6(TGFBR2):c.1016G>C (p.Arg339Pro) AND Loeys-Dietz syndrome 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 1, 2021
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:: RCV002245982.2

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]

Condition(s)

Name:: Loeys-Dietz syndrome 2 (LDS2)
Synonyms:: Loeys-Dietz syndrome type 1B; MARFAN SYNDROME, TYPE II; Loeys-Dietz syndrome type 2B; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012427; MedGen: C2674574; Orphanet: 558; OMIM: 610168

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002025506	Centre of Medical Genetics, University of Antwerp	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 1, 2021)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002025506

Centre of Medical Genetics, University of Antwerp

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 1, 2021)

unknown

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

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 Centre of Medical Genetics, University of Antwerp, SCV002025506.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

Description

PM2, PP3, PM1

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

Last Updated: Sep 29, 2024

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