NM_003239.5(TGFB3):c.884del (p.Gly295fs) AND Rienhoff syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 4, 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:: RCV003583231.1

Allele description [Variation Report for NM_003239.5(TGFB3):c.884del (p.Gly295fs)]

NM_003239.5(TGFB3):c.884del (p.Gly295fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

14q24.3

Genomic location:

Preferred name:

NM_003239.5(TGFB3):c.884del (p.Gly295fs)

HGVS:

NC_000014.9:g.75963363del
NG_011715.1:g.23392del
NM_001329938.2:c.884del
NM_001329939.2:c.884del
NM_003239.5:c.884delMANE SELECT
NP_001316867.1:p.Gly295fs
NP_001316868.1:p.Gly295fs
NP_003230.1:p.Gly295Valfs
NP_003230.1:p.Gly295fs
LRG_399t1:c.879del
LRG_399:g.23392del
LRG_399p1:p.Gly295Valfs
NC_000014.8:g.76429706del
NC_000014.9:g.75963358delC
NM_003239.2:c.879delG
NM_003239.4:c.884del

Protein change:

G295fs

Molecular consequence:

NM_001329938.2:c.884del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001329939.2:c.884del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003239.5:c.884del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004244529	Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 4, 2023)	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

SCV004244529

Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 4, 2023)

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	yes	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 Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center, SCV004244529.1

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

Description

PVS1, PM2

#	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: Jun 23, 2024

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