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NM_001128928.2(INPP1):c.70del (p.Gln24fs) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000844757.3

Allele description [Variation Report for NM_001128928.2(INPP1):c.70del (p.Gln24fs)]

NM_001128928.2(INPP1):c.70del (p.Gln24fs)

Genes:
LOC129935252:ATAC-STARR-seq lymphoblastoid active region 16859 [Gene]
INPP1:inositol polyphosphate-1-phosphatase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q32.2
Genomic location:
Preferred name:
NM_001128928.2(INPP1):c.70del (p.Gln24fs)
HGVS:
  • NC_000002.12:g.190360172del
  • NM_001128928.2:c.70delMANE SELECT
  • NM_002194.4:c.70del
  • NP_001122400.1:p.Gln24fs
  • NP_002185.1:p.Gln24fs
  • NC_000002.11:g.191224898del
  • NM_002194.3:c.70delC
Protein change:
Q24fs
Links:
dbSNP: rs1575788223
NCBI 1000 Genomes Browser:
rs1575788223
Molecular consequence:
  • NM_001128928.2:c.70del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002194.4:c.70del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Retinal disorder
Synonyms:
Retinopathy; Retinopathies; Retinal Diseases
Identifiers:
MONDO: MONDO:0005283; MedGen: C0035309; Human Phenotype Ontology: HP:0000488
Name:
Cleft palate
Identifiers:
MONDO: MONDO:0016064; MedGen: C2981150; Human Phenotype Ontology: HP:0000175

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000886520Hadassah Hebrew University Medical Center
no assertion criteria provided
Uncertain significancegermlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

Details of each submission

From Hadassah Hebrew University Medical Center, SCV000886520.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024