NM_003242.6(TGFBR2):c.835T>C (p.Phe279Leu) AND Loeys-Dietz syndrome 2

Germline classification:: Uncertain significance (1 submission)
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:: RCV001258149.2

Allele description [Variation Report for NM_003242.6(TGFBR2):c.835T>C (p.Phe279Leu)]

NM_003242.6(TGFBR2):c.835T>C (p.Phe279Leu)

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.835T>C (p.Phe279Leu)

HGVS:

NC_000003.12:g.30672018T>C
NG_007490.1:g.70517T>C
NM_001024847.3:c.910T>C
NM_001407126.1:c.1018T>C
NM_001407127.1:c.943T>C
NM_001407128.1:c.862T>C
NM_001407129.1:c.838T>C
NM_001407130.1:c.835T>C
NM_001407132.1:c.730T>C
NM_001407133.1:c.730T>C
NM_001407134.1:c.730T>C
NM_001407135.1:c.730T>C
NM_001407136.1:c.730T>C
NM_001407137.1:c.550T>C
NM_001407138.1:c.475T>C
NM_003242.6:c.835T>CMANE SELECT
NP_001020018.1:p.Phe304Leu
NP_001020018.1:p.Phe304Leu
NP_001394055.1:p.Phe340Leu
NP_001394056.1:p.Phe315Leu
NP_001394057.1:p.Phe288Leu
NP_001394058.1:p.Phe280Leu
NP_001394059.1:p.Phe279Leu
NP_001394061.1:p.Phe244Leu
NP_001394062.1:p.Phe244Leu
NP_001394063.1:p.Phe244Leu
NP_001394064.1:p.Phe244Leu
NP_001394065.1:p.Phe244Leu
NP_001394066.1:p.Phe184Leu
NP_001394067.1:p.Phe159Leu
NP_003233.4:p.Phe279Leu
LRG_779t1:c.910T>C
LRG_779t2:c.835T>C
LRG_779:g.70517T>C
LRG_779p1:p.Phe304Leu
LRG_779p2:p.Phe279Leu
NC_000003.11:g.30713510T>C
NM_001024847.2:c.910T>C

Protein change:

F159L

Links:

dbSNP: rs746824357

NCBI 1000 Genomes Browser:

rs746824357

Molecular consequence:

NM_001024847.3:c.910T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407126.1:c.1018T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407127.1:c.943T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407128.1:c.862T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407129.1:c.838T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407130.1:c.835T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407132.1:c.730T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407133.1:c.730T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407134.1:c.730T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407135.1:c.730T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407136.1:c.730T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407137.1:c.550T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407138.1:c.475T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003242.6:c.835T>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
SCV001435037	Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001435037

Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

germline

clinical testing

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine, SCV001435037.1

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

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

Last Updated: Sep 29, 2024

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