NM_003242.6(TGFBR2):c.1447del (p.Cys483fs) AND Malignant tumor of esophagus

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 4, 2022
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:: RCV002246771.2

Allele description [Variation Report for NM_003242.6(TGFBR2):c.1447del (p.Cys483fs)]

NM_003242.6(TGFBR2):c.1447del (p.Cys483fs)

Gene:

TGFBR2:transforming growth factor beta receptor 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3p24.1

Genomic location:

Preferred name:

NM_003242.6(TGFBR2):c.1447del (p.Cys483fs)

HGVS:

NC_000003.12:g.30688434del
NG_007490.1:g.86933del
NM_001024847.3:c.1522delT
NM_001407126.1:c.1630delT
NM_001407127.1:c.1555delT
NM_001407128.1:c.1474delT
NM_001407129.1:c.1450delT
NM_001407130.1:c.1444delT
NM_001407132.1:c.1342delT
NM_001407133.1:c.1342delT
NM_001407134.1:c.1342delT
NM_001407135.1:c.1342delT
NM_001407136.1:c.1342delT
NM_001407137.1:c.1162delT
NM_001407138.1:c.1087delT
NM_001407139.1:c.577delT
NM_003242.6:c.1447delMANE SELECT
NP_001020018.1:p.Cys508Valfs
NP_001020018.1:p.Cys508fs
NP_001394055.1:p.Cys544Valfs
NP_001394056.1:p.Cys519Valfs
NP_001394057.1:p.Cys492Valfs
NP_001394058.1:p.Cys484Valfs
NP_001394059.1:p.Cys482Valfs
NP_001394061.1:p.Cys448Valfs
NP_001394062.1:p.Cys448Valfs
NP_001394063.1:p.Cys448Valfs
NP_001394064.1:p.Cys448Valfs
NP_001394065.1:p.Cys448Valfs
NP_001394066.1:p.Cys388Valfs
NP_001394067.1:p.Cys363Valfs
NP_001394068.1:p.Cys193Valfs
NP_003233.4:p.Cys483fs
LRG_779t1:c.1522del
LRG_779t2:c.1447del
LRG_779:g.86933del
LRG_779p1:p.Cys508fs
LRG_779p2:p.Cys483fs
NC_000003.11:g.30729926del
NC_000003.12:g.30688434_30688434delT
NM_001024847.2:c.1522del

Protein change:

C483fs

Links:

dbSNP: rs2125451831

NCBI 1000 Genomes Browser:

rs2125451831

Molecular consequence:

NM_001024847.3:c.1522delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407126.1:c.1630delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407127.1:c.1555delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407128.1:c.1474delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407129.1:c.1450delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407130.1:c.1444delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407132.1:c.1342delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407133.1:c.1342delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407134.1:c.1342delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407135.1:c.1342delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407136.1:c.1342delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407137.1:c.1162delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407138.1:c.1087delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407139.1:c.577delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003242.6:c.1447del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Malignant tumor of esophagus
Synonyms:: Esophageal cancer; Esophagus cancer; Esophageal cancer, somatic
Identifiers:: MONDO: MONDO:0007576; MedGen: C0546837; Orphanet: 99977; OMIM: 133239

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002519863	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Pathogenic (May 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002519863

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Pathogenic
(May 4, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV002519863.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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