NM_003242.6(TGFBR2):c.1049T>A (p.Leu350Gln) AND Loeys-Dietz syndrome 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 1, 2023
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:: RCV003484526.2

Allele description [Variation Report for NM_003242.6(TGFBR2):c.1049T>A (p.Leu350Gln)]

NM_003242.6(TGFBR2):c.1049T>A (p.Leu350Gln)

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.1049T>A (p.Leu350Gln)

HGVS:

NC_000003.12:g.30672232T>A
NG_007490.1:g.70731T>A
NM_001024847.3:c.1124T>A
NM_001407126.1:c.1232T>A
NM_001407127.1:c.1157T>A
NM_001407128.1:c.1076T>A
NM_001407129.1:c.1052T>A
NM_001407130.1:c.1049T>A
NM_001407132.1:c.944T>A
NM_001407133.1:c.944T>A
NM_001407134.1:c.944T>A
NM_001407135.1:c.944T>A
NM_001407136.1:c.944T>A
NM_001407137.1:c.764T>A
NM_001407138.1:c.689T>A
NM_001407139.1:c.530-16155T>A
NM_003242.6:c.1049T>AMANE SELECT
NP_001020018.1:p.Leu375Gln
NP_001020018.1:p.Leu375Gln
NP_001394055.1:p.Leu411Gln
NP_001394056.1:p.Leu386Gln
NP_001394057.1:p.Leu359Gln
NP_001394058.1:p.Leu351Gln
NP_001394059.1:p.Leu350Gln
NP_001394061.1:p.Leu315Gln
NP_001394062.1:p.Leu315Gln
NP_001394063.1:p.Leu315Gln
NP_001394064.1:p.Leu315Gln
NP_001394065.1:p.Leu315Gln
NP_001394066.1:p.Leu255Gln
NP_001394067.1:p.Leu230Gln
NP_003233.4:p.Leu350Gln
LRG_779t1:c.1124T>A
LRG_779t2:c.1049T>A
LRG_779:g.70731T>A
LRG_779p1:p.Leu375Gln
LRG_779p2:p.Leu350Gln
NC_000003.11:g.30713724T>A
NM_001024847.2:c.1124T>A
NM_003242.5:c.1049T>A

Protein change:

L230Q

Molecular consequence:

NM_001407139.1:c.530-16155T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001024847.3:c.1124T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407126.1:c.1232T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407127.1:c.1157T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407128.1:c.1076T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407129.1:c.1052T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407130.1:c.1049T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407132.1:c.944T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407133.1:c.944T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407134.1:c.944T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407135.1:c.944T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407136.1:c.944T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407137.1:c.764T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407138.1:c.689T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003242.6:c.1049T>A - 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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PREDICTED: pre-mRNA-splicing factor CWC22 homolog isoform X1 [Cucumis melo]
PREDICTED: pre-mRNA-splicing factor CWC22 homolog isoform X1 [Cucumis melo]
gi|659097643|ref|XP_008449735.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004229082	Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	criteria provided, single submitter (ACGS Guidelines, 2020)	Likely pathogenic (Dec 1, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004229082

Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

criteria provided, single submitter

(ACGS Guidelines, 2020)

Likely pathogenic
(Dec 1, 2023)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV004229082.1

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

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

Last Updated: Feb 4, 2024

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