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NM_207581.4(DUOXA2):c.963_*1del (p.Ter321TrpextTer?) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 14, 2017
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:
RCV000592038.4

Allele description [Variation Report for NM_207581.4(DUOXA2):c.963_*1del (p.Ter321TrpextTer?)]

NM_207581.4(DUOXA2):c.963_*1del (p.Ter321TrpextTer?)

Genes:
DUOXA1:dual oxidase maturation factor 1 [Gene - OMIM - HGNC]
DUOXA2:dual oxidase maturation factor 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_207581.4(DUOXA2):c.963_*1del (p.Ter321TrpextTer?)
HGVS:
  • NC_000015.10:g.45117909_45117910del
  • NG_009447.1:g.1253_1254del
  • NG_016992.1:g.8585_8586del
  • NG_033105.2:g.16969_16970del
  • NM_001276264.2:c.1152_1153del
  • NM_001276265.1:c.1017_1018del
  • NM_001276266.2:c.*1197_*1198delMANE SELECT
  • NM_001276267.2:c.*1197_*1198del
  • NM_001276268.2:c.*1197_*1198del
  • NM_001384349.1:c.*1197_*1198del
  • NM_144565.4:c.1152_1153del
  • NM_207581.4:c.963_*1delMANE SELECT
  • NP_001263193.1:p.His385fs
  • NP_001263194.1:p.His340fs
  • NP_653166.2:p.His385fs
  • NP_997464.2:p.Ter321TrpextTer?
  • NC_000015.9:g.45410107_45410108del
Protein change:
H340fs
Links:
dbSNP: rs1164865143
NCBI 1000 Genomes Browser:
rs1164865143
Molecular consequence:
  • NM_001276266.2:c.*1197_*1198del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276267.2:c.*1197_*1198del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276268.2:c.*1197_*1198del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001384349.1:c.*1197_*1198del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276264.2:c.1152_1153del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001276265.1:c.1017_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144565.4:c.1152_1153del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_207581.4:c.963_*1del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_207581.4:c.963_*1del - stop lost - [Sequence Ontology: SO:0001578]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000707877Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Uncertain significance
(Apr 14, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000707877.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 1, 2023