NM_207581.4(DUOXA2):c.341-4A>G AND Thyroglobulin synthesis defect

Germline classification:: Benign (1 submission)
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:: RCV000610439.1

Allele description [Variation Report for NM_207581.4(DUOXA2):c.341-4A>G]

NM_207581.4(DUOXA2):c.341-4A>G

Gene:

DUOXA2:dual oxidase maturation factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

Preferred name:

NM_207581.4(DUOXA2):c.341-4A>G

HGVS:

NC_000015.10:g.45116512A>G
NG_009447.1:g.2650T>C
NG_016992.1:g.7188A>G
NG_033105.2:g.18366T>C
NM_207581.4:c.341-4A>GMANE SELECT
NC_000015.9:g.45408710A>G
NG_033105.1:g.18366T>C
NM_207581.3:c.341-4A>G

Links:

dbSNP: rs2554459

NCBI 1000 Genomes Browser:

rs2554459

Molecular consequence:

NM_207581.4:c.341-4A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Thyroglobulin synthesis defect (TDH5)
Synonyms:: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 5; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 5; Thyroid dyshormonogenesis 5
Identifiers:: MONDO: MONDO:0010137; MedGen: C0342196; Orphanet: 95716; OMIM: 274900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000733456	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000733456

Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus

no assertion criteria provided

Benign

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 Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000733456.1

#	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: Sep 29, 2024

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