NM_207581.4(DUOXA2):c.95dup (p.Leu32fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 8, 2018
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:: RCV001383582.4

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001582772	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Feb 8, 2018)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 18042646, 23292166, 25675383, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001582772

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Feb 8, 2018)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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

Citations

PubMed

Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.

Zamproni I, Grasberger H, Cortinovis F, Vigone MC, Chiumello G, Mora S, Onigata K, Fugazzola L, Refetoff S, Persani L, Weber G.

J Clin Endocrinol Metab. 2008 Feb;93(2):605-10. Epub 2007 Nov 27.

PubMed [citation]

PMID:: 18042646
PMCID:: PMC2243227

A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism.

Yi RH, Zhu WB, Yang LY, Lan L, Chen Y, Zhou JF, Wang J, Su YQ.

Int J Mol Med. 2013 Feb;31(2):467-70. doi: 10.3892/ijmm.2012.1223. Epub 2012 Dec 24.

PubMed [citation]

PMID:: 23292166

See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001582772.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Leu32Phefs*78) in the DUOXA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DUOXA2 are known to be pathogenic (PMID: 18042646, 23292166, 25675383). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DUOXA2-related disease. For these reasons, this variant has been classified as Pathogenic.

#	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: Feb 14, 2024

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