NM_003242.6(TGFBR2):c.455-4T>A AND not specified

Germline classification:: Benign (8 submissions)
Last evaluated:: Jan 24, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000037737.29

Allele description [Variation Report for NM_003242.6(TGFBR2):c.455-4T>A]

NM_003242.6(TGFBR2):c.455-4T>A

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.455-4T>A

HGVS:

NC_000003.12:g.30671634T>A
NG_007490.1:g.70133T>A
NM_001024847.3:c.530-4T>A
NM_001407126.1:c.638-4T>A
NM_001407127.1:c.563-4T>A
NM_001407128.1:c.482-4T>A
NM_001407129.1:c.458-4T>A
NM_001407130.1:c.455-4T>A
NM_001407132.1:c.350-4T>A
NM_001407133.1:c.350-4T>A
NM_001407134.1:c.350-4T>A
NM_001407135.1:c.350-4T>A
NM_001407136.1:c.350-4T>A
NM_001407137.1:c.170-4T>A
NM_001407138.1:c.95-4T>A
NM_001407139.1:c.530-16753T>A
NM_003242.6:c.455-4T>AMANE SELECT
LRG_779t1:c.530-4T>A
LRG_779t2:c.455-4T>A
LRG_779:g.70133T>A
NC_000003.11:g.30713126T>A
NM_001024847.2:c.530-4T>A
NM_003242.5:c.455-4T>A
NM_003242.6:c.455-4T>A
c.455-4T>A

Links:

dbSNP: rs11466512

NCBI 1000 Genomes Browser:

rs11466512

Molecular consequence:

NM_001024847.3:c.530-4T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407126.1:c.638-4T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407127.1:c.563-4T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407128.1:c.482-4T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407129.1:c.458-4T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407130.1:c.455-4T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407132.1:c.350-4T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407133.1:c.350-4T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407134.1:c.350-4T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407135.1:c.350-4T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407136.1:c.350-4T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407137.1:c.170-4T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407138.1:c.95-4T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407139.1:c.530-16753T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_003242.6:c.455-4T>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

298

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000061399	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Sep 19, 2011)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000168937	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Nov 20, 2012)	germline	clinical testing	Citation Link,
SCV000309522	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001740011	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Benign	germline	clinical testing
SCV001807929	Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus	no assertion criteria provided	Benign	germline	clinical testing
SCV001955400	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV001969088	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV004233888	Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jan 24, 2024)	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	no	47	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	301	298	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

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 Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061399.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	301	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		301	not provided	298	not provided

From GeneDx, SCV000168937.10

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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

From PreventionGenetics, part of Exact Sciences, SCV000309522.1

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

#	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

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001740011.3

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001807929.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001955400.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001969088.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan, SCV004233888.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	47	not provided	not provided	clinical testing	PubMed (1)

Description

This variant is classified as Benign based on local population frequency. This variant was detected in 53% of patients studied by a panel of primary immunodeficiencies. Number of patients: 47. Only high quality variants are reported.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		47	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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