NM_207581.4(DUOXA2):c.205+2T>C AND Congenital hypothyroidism

Germline classification:: Pathogenic (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:: RCV001270332.1

Allele description [Variation Report for NM_207581.4(DUOXA2):c.205+2T>C]

NM_207581.4(DUOXA2):c.205+2T>C

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.205+2T>C

HGVS:

NC_000015.10:g.45115858T>C
NG_009447.1:g.3304A>G
NG_016992.1:g.6534T>C
NG_033105.2:g.19020A>G
NM_207581.4:c.205+2T>CMANE SELECT
NC_000015.9:g.45408056T>C
NM_207581.3:c.205+2T>C

Links:

dbSNP: rs201506037

NCBI 1000 Genomes Browser:

rs201506037

Molecular consequence:

NM_207581.4:c.205+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Congenital hypothyroidism
Identifiers:: MONDO: MONDO:0018612; MedGen: C0010308; Human Phenotype Ontology: HP:0000851

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001450555	Polak associated Lab, IMAGINE Institute	no assertion criteria provided	Pathogenic	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001450555

Polak associated Lab, IMAGINE Institute

no assertion criteria provided

Pathogenic

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 Polak associated Lab, IMAGINE Institute, SCV001450555.1

#	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: Oct 13, 2024

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