NM_001354712.2(THRB):c.*3910dup AND Thyroid hormone resistance syndrome

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Jun 14, 2016
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:: RCV000348669.5

Allele description [Variation Report for NM_001354712.2(THRB):c.*3910dup]

NM_001354712.2(THRB):c.*3910dup

Gene:

THRB:thyroid hormone receptor beta [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

3p24.2

Genomic location:

Preferred name:

NM_001354712.2(THRB):c.*3910dup

HGVS:

NC_000003.12:g.24119003dup
NG_009159.1:g.380849dup
NM_000461.5:c.*3910dup
NM_001128176.3:c.*3910dup
NM_001128177.2:c.*3910dup
NM_001252634.2:c.*3910dup
NM_001354708.2:c.*3910dup
NM_001354709.2:c.*3910dup
NM_001354710.2:c.*3910dup
NM_001354711.2:c.*3910dup
NM_001354712.2:c.*3910dupMANE SELECT
NM_001354713.2:c.*3910dup
NM_001354714.2:c.*3910dup
NM_001354715.2:c.*3910dup
NC_000003.11:g.24160494dup
NM_000461.4:c.*3910dupA

Links:

dbSNP: rs559325556

NCBI 1000 Genomes Browser:

rs559325556

Molecular consequence:

NM_000461.5:c.*3910dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001128176.3:c.*3910dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001128177.2:c.*3910dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001252634.2:c.*3910dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354708.2:c.*3910dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354709.2:c.*3910dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354710.2:c.*3910dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354711.2:c.*3910dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354712.2:c.*3910dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354713.2:c.*3910dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354714.2:c.*3910dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354715.2:c.*3910dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:: Thyroid hormone resistance syndrome
Identifiers:: MONDO: MONDO:0001328; MedGen: C2940786

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000442715	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf, Citation Link,
SCV000442721	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf, Citation Link,
SCV000442724	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000442715

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV000442721

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV000442724

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

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 Illumina Laboratory Services, Illumina, SCV000442715.2

#	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

From Illumina Laboratory Services, Illumina, SCV000442721.2

#	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

From Illumina Laboratory Services, Illumina, SCV000442724.2

#	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: Apr 9, 2023

ClinVar

Relating variation to medicine