NM_003239.5(TGFB3):c.929A>C (p.Asn310Thr) AND Rienhoff syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 27, 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:: RCV002546215.10

Allele description [Variation Report for NM_003239.5(TGFB3):c.929A>C (p.Asn310Thr)]

NM_003239.5(TGFB3):c.929A>C (p.Asn310Thr)

Gene:

TGFB3:transforming growth factor beta 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.3

Genomic location:

Preferred name:

NM_003239.5(TGFB3):c.929A>C (p.Asn310Thr)

HGVS:

NC_000014.9:g.75961074T>G
NG_011715.1:g.25676A>C
NM_001329939.2:c.929A>C
NM_003239.5:c.929A>CMANE SELECT
NP_001316868.1:p.Asn310Thr
NP_003230.1:p.Asn310Thr
LRG_399:g.25676A>C
NC_000014.8:g.76427417T>G

Protein change:

N310T

Links:

dbSNP: rs1194831540

NCBI 1000 Genomes Browser:

rs1194831540

Molecular consequence:

NM_001329939.2:c.929A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003239.5:c.929A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Rienhoff syndrome
Synonyms:: Loeys-Dietz syndrome 5
Identifiers:: MONDO: MONDO:0014262; MedGen: C3810012; OMIM: 615582

Recent activity

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junction plakoglobin isoform X1 [Notechis scutatus]
junction plakoglobin isoform X1 [Notechis scutatus]
gi|1487324317|ref|XP_026525655.1|

Protein
Homo sapiens NHS like 1 (NHSL1), transcript variant 2, mRNA
Homo sapiens NHS like 1 (NHSL1), transcript variant 2, mRNA
gi|1677501330|ref|NM_001144060.2|

Nucleotide
Homo sapiens zinc finger protein 326 (ZNF326), transcript variant 4, mRNA
Homo sapiens zinc finger protein 326 (ZNF326), transcript variant 4, mRNA
gi|1675004363|ref|NM_001320185.2|

Nucleotide
Haloarcula sp. TG2 16S ribosomal RNA gene, partial sequence
Haloarcula sp. TG2 16S ribosomal RNA gene, partial sequence
gi|951594036|gb|KU051671.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001518275	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 27, 2020)	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

SCV001518275

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 27, 2020)

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001518275.4

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TGFB3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with threonine at codon 310 of the TGFB3 protein (p.Asn310Thr). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and threonine.

#	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: Nov 3, 2024

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