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NM_207581.4(DUOXA2):c.95dup (p.Leu32fs) AND Thyroglobulin synthesis defect

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001251192.1

Allele description [Variation Report for NM_207581.4(DUOXA2):c.95dup (p.Leu32fs)]

NM_207581.4(DUOXA2):c.95dup (p.Leu32fs)

Gene:
DUOXA2:dual oxidase maturation factor 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_207581.4(DUOXA2):c.95dup (p.Leu32fs)
HGVS:
  • NC_000015.10:g.45114700dup
  • NG_009447.1:g.4466dup
  • NG_016992.1:g.5376dup
  • NM_207581.4:c.95dupMANE SELECT
  • NP_997464.2:p.Leu32fs
  • NC_000015.9:g.45406893_45406894insT
  • NC_000015.9:g.45406898dup
  • NM_207581.3:c.95dup
Protein change:
L32fs
Links:
dbSNP: rs974496530
NCBI 1000 Genomes Browser:
rs974496530
Molecular consequence:
  • NM_207581.4:c.95dup - frameshift variant - [Sequence Ontology: SO:0001589]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001426581Centogene AG - the Rare Disease Company
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicgermlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.

Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, Calvo M, Herrera-Ordonez N, Segura-Castel M, Diego-Alvarez D, Zawada M, Kandaswamy KK, Werber M, Paknia O, Zielske S, Ugrinovski D, Warnack G, Kampe K, Iurașcu MI, Cozma C, Vogel F, Alhashem A, et al.

Eur J Hum Genet. 2021 Jan;29(1):141-153. doi: 10.1038/s41431-020-00713-9. Epub 2020 Aug 28.

PubMed [citation]
PMID:
32860008
PMCID:
PMC7852664

Details of each submission

From Centogene AG - the Rare Disease Company, SCV001426581.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 14, 2024