ClinVar Genomic variation as it relates to human health
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance(11); Likely benign(3)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser)
Variation ID: 161393 Accession: VCV000161393.94
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 9q22.33 9: 101911508 (GRCh37) [ NCBI UCSC ] 9: 99149226 (GRCh38) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Dec 7, 2014 Oct 20, 2024 May 9, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_004612.4:c.1433A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_004603.1:p.Asn478Ser missense NM_001130916.3:c.1202A>G NP_001124388.1:p.Asn401Ser missense NM_001306210.2:c.1445A>G NP_001293139.1:p.Asn482Ser missense NC_000009.12:g.99149226A>G NC_000009.11:g.101911508A>G NG_007461.1:g.49097A>G - Protein change
- N401S, N478S, N482S
- Other names
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p.N478S:AAT>AGT
- Canonical SPDI
- NC_000009.12:99149225:A:G
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
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The frequency of the allele represented by this VCV record.
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Trans-Omics for Precision Medicine (TOPMed) 0.00028
The Genome Aggregation Database (gnomAD) 0.00036
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00046
- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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TGFBR1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
993 | 1070 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Uncertain significance (2) |
criteria provided, single submitter
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Jan 21, 2022 | RCV000148890.13 | |
Likely benign (2) |
criteria provided, multiple submitters, no conflicts
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May 9, 2024 | RCV000199866.18 | |
Uncertain significance (4) |
criteria provided, multiple submitters, no conflicts
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Jan 29, 2024 | RCV000229867.27 | |
Uncertain significance (1) |
criteria provided, single submitter
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Jul 22, 2020 | RCV002277294.10 | |
TGFBR1-related disorder
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Uncertain significance (1) |
no assertion criteria provided
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Feb 20, 2024 | RCV003975170.2 |
Conflicting interpretations of pathogenicity (4) |
criteria provided, conflicting classifications
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Nov 14, 2023 | RCV000726645.39 | |
Uncertain significance (1) |
criteria provided, single submitter
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Jan 7, 2022 | RCV002478418.8 | |
Uncertain significance (1) |
criteria provided, single submitter
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Feb 5, 2024 | RCV003998179.2 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(Oct 28, 2016)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Eurofins Ntd Llc (ga)
Accession: SCV000701927.2
First in ClinVar: Dec 19, 2017 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 2
Sex: mixed
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Uncertain significance
(Jul 22, 2020)
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criteria provided, single submitter
Method: clinical testing
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Ehlers-Danlos syndrome
Affected status: unknown
Allele origin:
germline
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Genome Diagnostics Laboratory, The Hospital for Sick Children
Accession: SCV002566133.1
First in ClinVar: Aug 29, 2022 Last updated: Aug 29, 2022 |
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Uncertain significance
(Feb 15, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial thoracic aortic aneurysm and aortic dissection
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV002043332.2
First in ClinVar: Dec 29, 2021 Last updated: Feb 04, 2024 |
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Likely Benign
(Mar 06, 2018)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000540517.2
First in ClinVar: Mar 08, 2017 Last updated: Apr 20, 2024 |
Comment:
p.Asn478Ser in exon 9 of TGFBR1: This variant is not expected to have clinical significance because it has been identified in 0.05% (59/125980) of European … (more)
p.Asn478Ser in exon 9 of TGFBR1: This variant is not expected to have clinical significance because it has been identified in 0.05% (59/125980) of European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs141259922) and in 2 unaffected parents (Loeys 2006). ACMG/AMP Criteria applied: BS2; BS1_Supporting. (less)
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Uncertain significance
(Jan 07, 2022)
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criteria provided, single submitter
Method: clinical testing
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Multiple self-healing squamous epithelioma
Loeys-Dietz syndrome 1
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002789419.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Uncertain significance
(Jul 18, 2023)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000250912.18
First in ClinVar: Oct 11, 2015 Last updated: Jul 29, 2023 |
Comment:
Initially identified in a child with LDS and her unaffected father (Loeys et al., 2006); Published in association with Loeys-Dietz syndrome (LDS) and thoracic aortic … (more)
Initially identified in a child with LDS and her unaffected father (Loeys et al., 2006); Published in association with Loeys-Dietz syndrome (LDS) and thoracic aortic disease, though not all publications included patient-specific data; also referred to as N401S due to alternate nomenclature (Loeys et al., 2006; Wellbrock et al., 2014; Taylor et al., 2015; Proost et al., 2015; Jondeau et al., 2016; Landis et al., 2017); 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: 21358634, 27879313, 17061023, 27153395, 25985138, 25637381, 25907466, 27647783, 24055113, 34426522, 25116393, 28550590, 16928994) (less)
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Uncertain significance
(Jan 21, 2022)
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criteria provided, single submitter
Method: clinical testing
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Loeys-Dietz syndrome 1
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV003819480.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
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Uncertain significance
(Jan 09, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial thoracic aortic aneurysm and aortic dissection
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV000913708.4
First in ClinVar: May 20, 2019 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces asparagine with serine at codon 478 of the TGFBR1 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
This missense variant replaces asparagine with serine at codon 478 of the TGFBR1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with Loeys-Dietz syndrome (PMID: 16928994, 2511639, 25985138), in individuals affected with Marfan-related disorders (PMID: 21358634, 25907466, 28550590) and in individuals affected with thoracic aortic aneurysm (PMID: 25907466, 28550590). This variant has been reported in an unaffected individual and his son showing a phenotype that is not consistent with Loeys-Dietz syndrome (Alsubaie 2018). This variant occurs at an appreciable frequency in the general population and has been identified in 77/281886 chromosomes (61/128464 non-Finnish European chromosomes) by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
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Uncertain significance
(Jan 29, 2024)
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criteria provided, single submitter
Method: clinical testing
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Familial thoracic aortic aneurysm and aortic dissection
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000288617.8
First in ClinVar: Jul 01, 2016 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 478 of the TGFBR1 protein (p.Asn478Ser). … (more)
This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 478 of the TGFBR1 protein (p.Asn478Ser). This variant is present in population databases (rs141259922, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with Loeys-Dietz Syndrome (PMID: 16928994, 25116393, 25907466, 25985138). ClinVar contains an entry for this variant (Variation ID: 161393). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TGFBR1 protein function with a negative predictive value of 80%. 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. (less)
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Uncertain significance
(Nov 14, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV004562194.1
First in ClinVar: Feb 20, 2024 Last updated: Feb 20, 2024 |
Comment:
The TGFBR1 c.1433A>G; p.Asn478Ser variant (rs141259922), also known as N401S, is reported in individuals with Loeys-Dietz syndrome or thoracic aortic aneurysm and dissection (Loeys 2006, … (more)
The TGFBR1 c.1433A>G; p.Asn478Ser variant (rs141259922), also known as N401S, is reported in individuals with Loeys-Dietz syndrome or thoracic aortic aneurysm and dissection (Loeys 2006, Proost 2015, Wellbrock 2014). In one individual with Loeys-Dietz syndrome, the variant was also detected in their unaffected father (Loeys 2006). The p.Asn478Ser variant is reported in ClinVar (Variation ID: 161393). It is observed in the general population with an overall allele frequency of 0.027% (77/281886 alleles) in the Genome Aggregation Database (v.2.1.1). Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.656). Due to limited information, the clinical significance of this variant is uncertain at this time. References: Loeys BL et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006 Aug 24;355(8):788-98. PMID: 16928994. Proost D et al. Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes. Hum Mutat. 2015 Aug;36(8):808-14. PMID: 25907466. Wellbrock J et al. Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection. PLoS One. 2014 Aug 12;9(8):e104742. PMID: 25116393. (less)
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Uncertain Significance
(Feb 05, 2024)
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criteria provided, single submitter
Method: clinical testing
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Loeys-Dietz syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004840437.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Comment:
This missense variant replaces asparagine with serine at codon 478 of the TGFBR1 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
This missense variant replaces asparagine with serine at codon 478 of the TGFBR1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with Loeys-Dietz syndrome (PMID: 16928994, 2511639, 25985138), in individuals affected with Marfan-related disorders (PMID: 21358634, 25907466, 28550590) and in individuals affected with thoracic aortic aneurysm (PMID: 25907466, 28550590). This variant has been reported in an unaffected individual and his son showing a phenotype that is not consistent with Loeys-Dietz syndrome (Alsubaie 2018). This variant occurs at an appreciable frequency in the general population and has been identified in 77/281886 chromosomes (61/128464 non-Finnish European chromosomes) by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
Number of individuals with the variant: 90
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Uncertain significance
(Jan 13, 2022)
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criteria provided, single submitter
Method: clinical testing
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Familial thoracic aortic aneurysm and aortic dissection
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000319263.7
First in ClinVar: Apr 14, 2018 Last updated: May 01, 2024 |
Comment:
The p.N478S variant (also known as c.1433A>G), located in coding exon 9 of the TGFBR1 gene, results from an A to G substitution at nucleotide … (more)
The p.N478S variant (also known as c.1433A>G), located in coding exon 9 of the TGFBR1 gene, results from an A to G substitution at nucleotide position 1433. The asparagine at codon 478 is replaced by serine, an amino acid with highly similar properties. This alteration has been reported in Loeys-Dietz syndrome cohorts and thoracic aortic aneurysm and dissection (TAAD) cohorts; however, clinical details were limited in some cases (Loeys BL et al. N. Engl. J. Med., 2006 Aug;355:788-98; Wellbrock J et al. PLoS ONE, 2014 Aug;9:e104742); Proost D et al. Hum. Mutat., 2015 Aug;36:808-14). This variant has also been seen in exome cohorts, but cardiovascular history was not provided (Amendola LM et al. Genome Res., 2015 Mar;25:305-15; Taylor JC et al. Nat. Genet., 2015 Jul;47:717-726: Maxwell KN et al. Am. J. Hum. Genet., 2016 May;98:801-817). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
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Likely benign
(May 09, 2024)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV005184958.1
First in ClinVar: Aug 11, 2024 Last updated: Aug 11, 2024 |
Comment:
Variant summary: TGFBR1 c.1433A>G (p.Asn478Ser) results in a conservative amino acid change located in the Protein kinase domain (IPR000719) of the encoded protein sequence. Three … (more)
Variant summary: TGFBR1 c.1433A>G (p.Asn478Ser) results in a conservative amino acid change located in the Protein kinase domain (IPR000719) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00029 in 250492 control chromosomes. The observed variant frequency is approximately 156 fold of the estimated maximal expected allele frequency for a pathogenic variant in TGFBR1 causing Loeys-Dietz Syndrome phenotype (1.9e-06), strongly suggesting that the variant is benign. c.1433A>G has been reported in the literature in individuals affected with Loeys-Dietz Syndrome and unspecified neurodevelopmental diseases, without strong evidence for causality (Alotibi_2023, Loeys_2006). These report(s) do not provide unequivocal conclusions about association of the variant with Loeys-Dietz Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 36937954, 16928994). ClinVar contains an entry for this variant (Variation ID: 161393). Based on the evidence outlined above, the variant was classified as likely benign. (less)
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Likely benign
(Oct 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV000892901.28
First in ClinVar: Mar 31, 2019 Last updated: Oct 20, 2024 |
Comment:
TGFBR1: PM1, BS1
Number of individuals with the variant: 5
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Uncertain significance
(Feb 20, 2024)
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no assertion criteria provided
Method: clinical testing
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TGFBR1-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004789648.2
First in ClinVar: Mar 16, 2024 Last updated: Oct 08, 2024 |
Comment:
The TGFBR1 c.1433A>G variant is predicted to result in the amino acid substitution p.Asn478Ser. This variant was reported in at least two individuals with Loeys-Dietz … (more)
The TGFBR1 c.1433A>G variant is predicted to result in the amino acid substitution p.Asn478Ser. This variant was reported in at least two individuals with Loeys-Dietz syndrome, in one of the cases this variant was found also in an unaffected father (Loeys et al. 2006. PubMed ID: 16928994; Wellbrock et al. 2014. PubMed ID: 25116393). This variant was also reported in an individual with thoracic aortic aneurysm (Proost et al. 2015. PubMed ID: 25907466). Furthermore, this variant was reported as a variant of unknown significance by large exome and genome studies, documented as an incidental finding (reported as p.Asn401Ser; Amendola et al. 2015. PubMed ID: 25637381 Table S1; Taylor et al. 2015. PubMed ID: 25985138 Table S10) and by an exome study of families with breast cancer (Maxwell et al. 2016. PubMed ID: 27153395 Table S5). This variant is reported in 0.047% of alleles in individuals of European (Non-Finnish) descent in gnomAD , which is higher than would be expected for causative variant. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. (less)
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Uncertain significance
(Jun 01, 2014)
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no assertion criteria provided
Method: research
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Loeys-Dietz aortic aneurysm syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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CSER _CC_NCGL, University of Washington
Study: ESP 6500 variant annotation
Accession: SCV000190636.1 First in ClinVar: Dec 07, 2014 Last updated: Dec 07, 2014
Comment:
Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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The diagnostic yield of CGH and WES in neurodevelopmental disorders. | Alotibi RS | Frontiers in pediatrics | 2023 | PMID: 36937954 |
Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity. | Landis BJ | Journal of cardiovascular translational research | 2017 | PMID: 28550590 |
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium). | Jondeau G | Circulation. Cardiovascular genetics | 2016 | PMID: 27879313 |
WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases. | Pinard A | Human mutation | 2016 | PMID: 27647783 |
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. | Maxwell KN | American journal of human genetics | 2016 | PMID: 27153395 |
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. | Taylor JC | Nature genetics | 2015 | PMID: 25985138 |
Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes. | Proost D | Human mutation | 2015 | PMID: 25907466 |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | Amendola LM | Genome research | 2015 | PMID: 25637381 |
Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice. | De Leeneer K | Human mutation | 2015 | PMID: 25504618 |
Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection. | Wellbrock J | PloS one | 2014 | PMID: 25116393 |
Actionable, pathogenic incidental findings in 1,000 participants' exomes. | Dorschner MO | American journal of human genetics | 2013 | PMID: 24055113 |
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. | Goudie DR | Nature genetics | 2011 | PMID: 21358634 |
Aneurysm syndromes caused by mutations in the TGF-beta receptor. | Loeys BL | The New England journal of medicine | 2006 | PMID: 16928994 |
[The diagnostic importance of determining minimal amounts of the Bence-Jones protein in the urine of patients with morphologically nondemonstrable lymphatic tumors]. | Sinitsina TV | Terapevticheskii arkhiv | 1989 | PMID: 2511639 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TGFBR1 | - | - | - | - |
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Text-mined citations for rs141259922 ...
HelpRecord last updated Nov 25, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.