NM_004612.4(TGFBR1):c.1205A>G (p.Tyr402Cys) AND not provided

Germline classification:: Uncertain significance (3 submissions)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001579350.3

Allele description [Variation Report for NM_004612.4(TGFBR1):c.1205A>G (p.Tyr402Cys)]

NM_004612.4(TGFBR1):c.1205A>G (p.Tyr402Cys)

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.1205A>G (p.Tyr402Cys)

HGVS:

NC_000009.12:g.99146559A>G
NG_007461.1:g.46430A>G
NM_001130916.3:c.974A>G
NM_001306210.2:c.1217A>G
NM_004612.4:c.1205A>GMANE SELECT
NP_001124388.1:p.Tyr325Cys
NP_001293139.1:p.Tyr406Cys
NP_004603.1:p.Tyr402Cys
NC_000009.11:g.101908841A>G
NM_004612.3:c.1205A>G

Protein change:

Y325C

Links:

dbSNP: rs762486367

NCBI 1000 Genomes Browser:

rs762486367

Molecular consequence:

NM_001130916.3:c.974A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001306210.2:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004612.4:c.1205A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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receptor-interacting serine-threonine kinase 4, partial [Crystallaria asprella]
receptor-interacting serine-threonine kinase 4, partial [Crystallaria asprella]
gi|482711055|gb|AGK34063.1|

Protein
early growth response 1, partial [Stellifer ericymba]
early growth response 1, partial [Stellifer ericymba]
gi|808040337|gb|AKC94559.1|

Protein
Stellifer rastrifer isolate CN440 early growth response 1 (EGR1) gene, partial c...
Stellifer rastrifer isolate CN440 early growth response 1 (EGR1) gene, partial cds
gi|808040342|gb|KP722874.1|

Nucleotide
early growth response 1, partial [Pteroscion peli]
early growth response 1, partial [Pteroscion peli]
gi|808040323|gb|AKC94552.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method
SCV001806889	Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus	no assertion criteria provided	Uncertain significance	germline	clinical testing
SCV001973256	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	Uncertain significance	germline	clinical testing
SCV002035500	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Uncertain significance	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001806889

Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus

no assertion criteria provided

Uncertain significance

germline

clinical testing

SCV001973256

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

See additional submitters

no assertion criteria provided

Uncertain significance

germline

clinical testing

SCV002035500

Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Uncertain significance

germline

clinical testing

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 Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001806889.1

#	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, SCV001973256.1

#	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 Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV002035500.1

#	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

Last Updated: Feb 20, 2024

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