NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 23, 2022
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:: RCV002225683.10

Allele description [Variation Report for NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys)]

NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys)

Gene:

TGFB2:transforming growth factor beta 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys)

HGVS:

NC_000001.11:g.218437368C>T
NG_027721.2:g.97035C>T
NM_001135599.4:c.1042C>T
NM_003238.6:c.958C>TMANE SELECT
NP_001129071.1:p.Arg348Cys
NP_003229.1:p.Arg320Cys
NC_000001.10:g.218610710C>T
NM_001135599.2:c.1042C>T
NM_003238.3:c.958C>T
NM_003238.4:c.958C>T
NR_138148.2:n.2209C>T
NR_138149.2:n.2293C>T

Protein change:

R320C; ARG348CYS

Links:

OMIM: 190220.0005; dbSNP: rs1553303352

NCBI 1000 Genomes Browser:

rs1553303352

Molecular consequence:

NM_001135599.4:c.1042C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003238.6:c.958C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_138148.2:n.2209C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_138149.2:n.2293C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Glycine Plasma Membrane Transport Proteins
Glycine Plasma Membrane Transport Proteins
A family of sodium chloride-dependent neurotransmitter symporters that transport the amino acid GLYCINE. They differ from GLYCINE RECEPTORS, which signal cellular responses to...<br/>Year introduced: 2006(1987)

MeSH
Vochysia rufa (1)
Taxonomy

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002504220	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Dec 23, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002504220

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Dec 23, 2022)

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, SCV002504220.2

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

Description

Reported in two unrelated individuals with non-syndromic aortic disease and Loeys-Dietz syndrome type 4 (LDS4) (also reported as p.(R348C) due to alternate nomenclature), and segregates with disease in affected family members from these two families (Gago-Diaz et al., 2014; Al Maskari et al., 2016); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25046559, 27782106)

#	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: Nov 3, 2024

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