NM_004577.4(PSPH):c.275+1del AND not provided

Germline classification:: Likely benign (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:: RCV001573262.1

Allele description [Variation Report for NM_004577.4(PSPH):c.275+1del]

NM_004577.4(PSPH):c.275+1del

Gene:

PSPH:phosphoserine phosphatase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7p11.2

Genomic location:

Preferred name:

NM_004577.4(PSPH):c.275+1del

HGVS:

NC_000007.14:g.56019600del
NG_011473.1:g.36977del
NM_001370503.1:c.275+1del
NM_001370504.1:c.275+1del
NM_001370505.1:c.275+1del
NM_001370506.1:c.275+1del
NM_001370507.1:c.275+1del
NM_001370508.1:c.275+1del
NM_001370509.1:c.275+1del
NM_001370510.1:c.275+1del
NM_001370511.1:c.275+1del
NM_001370512.1:c.275+1del
NM_001370513.1:c.275+1del
NM_001370514.1:c.275+1del
NM_001370515.1:c.275+1del
NM_001370516.1:c.275+1del
NM_001370517.1:c.275+1del
NM_001370518.1:c.275+1del
NM_001370519.1:c.275+1del
NM_001370520.1:c.275+1del
NM_001370521.1:c.275+1del
NM_001370522.1:c.275+1del
NM_004577.4:c.275+1delMANE SELECT
NC_000007.13:g.56087292delC
NC_000007.13:g.56087293del
NM_004577.3:c.275+1delG

Links:

dbSNP: rs139106189

NCBI 1000 Genomes Browser:

rs139106189

Molecular consequence:

NM_001370503.1:c.275+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370504.1:c.275+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370505.1:c.275+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370506.1:c.275+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370507.1:c.275+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370508.1:c.275+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370509.1:c.275+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370510.1:c.275+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370511.1:c.275+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370512.1:c.275+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370513.1:c.275+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370514.1:c.275+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370515.1:c.275+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370516.1:c.275+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370517.1:c.275+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370518.1:c.275+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370519.1:c.275+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370520.1:c.275+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370521.1:c.275+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370522.1:c.275+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_004577.4:c.275+1del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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uncharacterized protein LOC101206005 isoform X2 [Cucumis sativus]
uncharacterized protein LOC101206005 isoform X2 [Cucumis sativus]
gi|449470380|ref|XP_004152895.1|

Protein
Homologene neighbors for GEO Profiles (Select 55737401) (0)
GEO Profiles
Homologene neighbors for GEO Profiles (Select 55729254) (0)
GEO Profiles
Related DataSets for GEO Profiles (Select 55771267) (1)
GEO DataSets
Staphylococcal superantigen toxins effect on peripheral blood mononuclear cells
Staphylococcal superantigen toxins effect on peripheral blood mononuclear cells
Accession: GDS3399

GEO DataSets

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001798854	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001798854

Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus

no assertion criteria provided

Likely benign

germline

clinical testing

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 Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001798854.1

#	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: Jun 10, 2023

ClinVar

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