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NM_080611.5(DUSP15):c.294del (p.Ile98fs) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 7, 2023
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:
RCV004556027.1

Allele description [Variation Report for NM_080611.5(DUSP15):c.294del (p.Ile98fs)]

NM_080611.5(DUSP15):c.294del (p.Ile98fs)

Gene:
DUSP15:dual specificity phosphatase 15 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
20q11.21
Genomic location:
Preferred name:
NM_080611.5(DUSP15):c.294del (p.Ile98fs)
HGVS:
  • NC_000020.11:g.31862713del
  • NM_001012644.3:c.-16del
  • NM_001320478.1:c.285del
  • NM_001320479.1:c.285del
  • NM_080611.5:c.294delMANE SELECT
  • NM_177991.3:c.-16del
  • NP_001307407.1:p.Ile95fs
  • NP_001307408.1:p.Ile95fs
  • NP_542178.2:p.Ile98fs
  • NC_000020.10:g.30450516del
Protein change:
I95fs
Molecular consequence:
  • NM_001012644.3:c.-16del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_177991.3:c.-16del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001320478.1:c.285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001320479.1:c.285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_080611.5:c.294del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005045186Clinical Genomics Laboratory, Washington University in St. Louis
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 7, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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

Details of each submission

From Clinical Genomics Laboratory, Washington University in St. Louis, SCV005045186.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The DUSP15 c.294del (p.Ile98MetfsTer2) variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. This variant causes a frameshift by deleting a single nucleotide, leading to a premature termination codon; however, because this occurs in the penultimate exon, this is not predicted to lead to nonsense mediated decay. Due to limited information, the clinical significance of this variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 26, 2024