NM_004612.4(TGFBR1):c.50_52dup (p.Leu17_Ala18insVal) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 10, 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:: RCV003321184.1

Allele description [Variation Report for NM_004612.4(TGFBR1):c.50_52dup (p.Leu17_Ala18insVal)]

NM_004612.4(TGFBR1):c.50_52dup (p.Leu17_Ala18insVal)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

9q22.33

Genomic location:

Preferred name:

NM_004612.4(TGFBR1):c.50_52dup (p.Leu17_Ala18insVal)

HGVS:

NC_000009.12:g.99105255_99105257dup
NG_007461.1:g.5126_5128dup
NG_181669.1:g.715_717dup
NG_181670.1:g.25_27dup
NM_001130916.3:c.50_52dup
NM_001306210.2:c.50_52dup
NM_001407416.1:c.50_52dup
NM_001407417.1:c.50_52dup
NM_001407418.1:c.-111+1514_-111+1516dup
NM_001407419.1:c.-111+130_-111+132dup
NM_001407420.1:c.-294_-292dup
NM_001407422.1:c.-263_-261dup
NM_001407423.1:c.-111+1514_-111+1516dup
NM_001407424.1:c.-111+1149_-111+1151dup
NM_001407425.1:c.-111+736_-111+738dup
NM_001407426.1:c.-263_-261dup
NM_001407428.1:c.-218_-216dup
NM_001407429.1:c.-294_-292dup
NM_001407432.1:c.-247+130_-247+132dup
NM_001407433.1:c.-111+130_-111+132dup
NM_001407434.1:c.-111+529_-111+531dup
NM_001407435.1:c.50_52dup
NM_001407436.1:c.50_52dup
NM_001407437.1:c.50_52dup
NM_001407438.1:c.50_52dup
NM_004612.4:c.50_52dupMANE SELECT
NP_001124388.1:p.Leu17_Ala18insVal
NP_001293139.1:p.Leu17_Ala18insVal
NP_001394345.1:p.Leu17_Ala18insVal
NP_001394346.1:p.Leu17_Ala18insVal
NP_001394364.1:p.Leu17_Ala18insVal
NP_001394365.1:p.Leu17_Ala18insVal
NP_001394366.1:p.Leu17_Ala18insVal
NP_001394367.1:p.Leu17_Ala18insVal
NP_004603.1:p.Leu17_Ala18insVal
NC_000009.11:g.101867537_101867539dup
NM_004612.2:c.50_52dup
NR_176360.1:n.143_145dup
NR_176361.1:n.143_145dup
NR_176362.1:n.143_145dup
NR_176363.1:n.143_145dup

Molecular consequence:

NM_001407420.1:c.-294_-292dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407422.1:c.-263_-261dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407426.1:c.-263_-261dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407428.1:c.-218_-216dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407429.1:c.-294_-292dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001130916.3:c.50_52dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001306210.2:c.50_52dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407416.1:c.50_52dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407417.1:c.50_52dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407435.1:c.50_52dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407436.1:c.50_52dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407437.1:c.50_52dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407438.1:c.50_52dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_004612.4:c.50_52dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407418.1:c.-111+1514_-111+1516dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407419.1:c.-111+130_-111+132dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407423.1:c.-111+1514_-111+1516dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407424.1:c.-111+1149_-111+1151dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407425.1:c.-111+736_-111+738dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407432.1:c.-247+130_-247+132dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407433.1:c.-111+130_-111+132dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407434.1:c.-111+529_-111+531dup - intron variant - [Sequence Ontology: SO:0001627]
NR_176360.1:n.143_145dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176361.1:n.143_145dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176362.1:n.143_145dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176363.1:n.143_145dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004025369	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 10, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004025369

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Feb 10, 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, SCV004025369.1

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In-frame insertion of 1 amino acid in a non-repeat region

#	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: Aug 19, 2023

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Relating variation to medicine