NM_002435.3(MPI):c.144+16_144+20inv AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 23, 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:: RCV001704615.1

Allele description [Variation Report for NM_002435.3(MPI):c.144+16_144+20inv]

NM_002435.3(MPI):c.144+16_144+20inv

Gene:

MPI:mannose phosphate isomerase [Gene - OMIM - HGNC]

Variant type:

Inversion

Cytogenetic location:

15q24.1

Genomic location:

Preferred name:

NM_002435.3(MPI):c.144+16_144+20inv

HGVS:

NC_000015.10:g.74890670_74890674inv
NG_008921.1:g.5602_5606inv
NM_001289155.2:c.144+16_144+20inv
NM_001289156.2:c.-7+581_-7+585inv
NM_001289157.2:c.144+16_144+20inv
NM_001330372.2:c.84+16_84+20inv
NM_002435.3:c.144+16_144+20invMANE SELECT
NC_000015.9:g.75183011_75183015inv
NM_002435.1:c.144+16_144+20delTATTTinsAAATA

Molecular consequence:

NM_001289155.2:c.144+16_144+20inv - intron variant - [Sequence Ontology: SO:0001627]
NM_001289156.2:c.-7+581_-7+585inv - intron variant - [Sequence Ontology: SO:0001627]
NM_001289157.2:c.144+16_144+20inv - intron variant - [Sequence Ontology: SO:0001627]
NM_001330372.2:c.84+16_84+20inv - intron variant - [Sequence Ontology: SO:0001627]
NM_002435.3:c.144+16_144+20inv - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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HAUS augmin-like complex subunit 1 isoform 1 [Mus musculus]
HAUS augmin-like complex subunit 1 isoform 1 [Mus musculus]
gi|22122593|ref|NP_666201.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000569174	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Apr 23, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000569174

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Apr 23, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000569174.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine