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NM_002435.3(MPI):c.487+2del AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 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:
RCV003221965.10

Allele description [Variation Report for NM_002435.3(MPI):c.487+2del]

NM_002435.3(MPI):c.487+2del

Gene:
MPI:mannose phosphate isomerase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q24.1
Genomic location:
Preferred name:
NM_002435.3(MPI):c.487+2del
HGVS:
  • NC_000015.10:g.74892804del
  • NG_008921.1:g.7736del
  • NG_008921.2:g.7764del
  • NM_001289155.2:c.487+2del
  • NM_001289156.2:c.337+2del
  • NM_001289157.2:c.487+2del
  • NM_001330372.2:c.427+2del
  • NM_002435.3:c.487+2delMANE SELECT
  • NC_000015.9:g.75185145del
  • NM_002435.1:c.487+2delT
  • NM_002435.2:c.487+2del
  • NM_002435.2:c.487+2delT
Links:
dbSNP: rs1057516550
NCBI 1000 Genomes Browser:
rs1057516550
Molecular consequence:
  • NM_001289155.2:c.487+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001289156.2:c.337+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001289157.2:c.487+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001330372.2:c.427+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_002435.3:c.487+2del - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003917410CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Pathogenic
(Apr 1, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV003917410.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided

Description

MPI: PVS1, PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Jul 15, 2024