NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 19, 2020
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:: RCV001547011.3

Allele description [Variation Report for NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val)]

NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val)

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.967C>G (p.Leu323Val)

HGVS:

NC_000003.12:g.30672150C>G
NG_007490.1:g.70649C>G
NM_001024847.3:c.1042C>G
NM_001407126.1:c.1150C>G
NM_001407127.1:c.1075C>G
NM_001407128.1:c.994C>G
NM_001407129.1:c.970C>G
NM_001407130.1:c.967C>G
NM_001407132.1:c.862C>G
NM_001407133.1:c.862C>G
NM_001407134.1:c.862C>G
NM_001407135.1:c.862C>G
NM_001407136.1:c.862C>G
NM_001407137.1:c.682C>G
NM_001407138.1:c.607C>G
NM_003242.6:c.967C>GMANE SELECT
NP_001020018.1:p.Leu348Val
NP_001020018.1:p.Leu348Val
NP_001394055.1:p.Leu384Val
NP_001394056.1:p.Leu359Val
NP_001394057.1:p.Leu332Val
NP_001394058.1:p.Leu324Val
NP_001394059.1:p.Leu323Val
NP_001394061.1:p.Leu288Val
NP_001394062.1:p.Leu288Val
NP_001394063.1:p.Leu288Val
NP_001394064.1:p.Leu288Val
NP_001394065.1:p.Leu288Val
NP_001394066.1:p.Leu228Val
NP_001394067.1:p.Leu203Val
NP_003233.4:p.Leu323Val
LRG_779t1:c.1042C>G
LRG_779t2:c.967C>G
LRG_779:g.70649C>G
LRG_779p1:p.Leu348Val
LRG_779p2:p.Leu323Val
NC_000003.11:g.30713642C>G
NM_001024847.2:c.1042C>G
NM_003242.5:c.967C>G

Protein change:

L203V

Links:

dbSNP: rs781018006

NCBI 1000 Genomes Browser:

rs781018006

Molecular consequence:

NM_001024847.3:c.1042C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407126.1:c.1150C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407127.1:c.1075C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407128.1:c.994C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407129.1:c.970C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407130.1:c.967C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407132.1:c.862C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407133.1:c.862C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407134.1:c.862C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407135.1:c.862C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407136.1:c.862C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407137.1:c.682C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407138.1:c.607C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003242.6:c.967C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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SLIT-ROBO Rho GTPase-activating protein 2 isoform X3 [Rattus norvegicus]
SLIT-ROBO Rho GTPase-activating protein 2 isoform X3 [Rattus norvegicus]
gi|564380535|ref|XP_006249847.1|

Protein
ACYP2 [Miniopterus natalensis]
ACYP2 [Miniopterus natalensis]
Gene ID:107544279

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001766628	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 19, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001766628

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Feb 19, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001766628.1

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 252506; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 29168297)

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

Last Updated: Sep 29, 2024

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