NM_004612.4(TGFBR1):c.839C>G (p.Ser280Ter) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 13, 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:: RCV003314745.1

Allele description [Variation Report for NM_004612.4(TGFBR1):c.839C>G (p.Ser280Ter)]

NM_004612.4(TGFBR1):c.839C>G (p.Ser280Ter)

Gene:

TGFBR1:transforming growth factor beta receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.33

Genomic location:

Preferred name:

NM_004612.4(TGFBR1):c.839C>G (p.Ser280Ter)

HGVS:

NC_000009.12:g.99142569C>G
NG_007461.1:g.42440C>G
NM_001130916.3:c.608C>G
NM_001306210.2:c.851C>G
NM_001407418.1:c.644C>G
NM_001407419.1:c.644C>G
NM_001407420.1:c.644C>G
NM_001407422.1:c.644C>G
NM_001407423.1:c.632C>G
NM_001407424.1:c.632C>G
NM_001407425.1:c.632C>G
NM_001407426.1:c.632C>G
NM_001407427.1:c.632C>G
NM_001407428.1:c.632C>G
NM_001407429.1:c.632C>G
NM_001407430.1:c.632C>G
NM_001407432.1:c.632C>G
NM_001407433.1:c.632C>G
NM_001407434.1:c.632C>G
NM_001407435.1:c.608C>G
NM_001407436.1:c.593C>G
NM_001407437.1:c.131C>G
NM_001407438.1:c.362C>G
NM_004612.2:c.839C>G
NM_004612.4:c.839C>GMANE SELECT
NP_001124388.1:p.Ser203Ter
NP_001293139.1:p.Ser284Ter
NP_001394347.1:p.Ser215Ter
NP_001394348.1:p.Ser215Ter
NP_001394349.1:p.Ser215Ter
NP_001394351.1:p.Ser215Ter
NP_001394352.1:p.Ser211Ter
NP_001394353.1:p.Ser211Ter
NP_001394354.1:p.Ser211Ter
NP_001394355.1:p.Ser211Ter
NP_001394356.1:p.Ser211Ter
NP_001394357.1:p.Ser211Ter
NP_001394358.1:p.Ser211Ter
NP_001394359.1:p.Ser211Ter
NP_001394361.1:p.Ser211Ter
NP_001394362.1:p.Ser211Ter
NP_001394363.1:p.Ser211Ter
NP_001394364.1:p.Ser203Ter
NP_001394365.1:p.Ser198Ter
NP_001394366.1:p.Ser44Ter
NP_001394367.1:p.Ser121Ter
NP_004603.1:p.Ser280Ter
NC_000009.11:g.101904851C>G
NR_176360.1:n.1068C>G
NR_176361.1:n.932C>G
NR_176362.1:n.944C>G
NR_176363.1:n.932C>G

Protein change:

S121*

Molecular consequence:

NM_001130916.3:c.608C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001306210.2:c.851C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407418.1:c.644C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407419.1:c.644C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407420.1:c.644C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407422.1:c.644C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407423.1:c.632C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407424.1:c.632C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407425.1:c.632C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407426.1:c.632C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407427.1:c.632C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407428.1:c.632C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407429.1:c.632C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407430.1:c.632C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407432.1:c.632C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407433.1:c.632C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407434.1:c.632C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407435.1:c.608C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407436.1:c.593C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407437.1:c.131C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407438.1:c.362C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_004612.4:c.839C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004014143	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jan 13, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004014143

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jan 13, 2023)

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, SCV004014143.1

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

#	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: Feb 20, 2024

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Relating variation to medicine