NM_000391.4(TPP1):c.887-9_887-6del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Oct 21, 2015
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:: RCV000675460.5

Allele description [Variation Report for NM_000391.4(TPP1):c.887-9_887-6del]

NM_000391.4(TPP1):c.887-9_887-6del

Gene:

TPP1:tripeptidyl peptidase 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000391.4(TPP1):c.887-9_887-6del

HGVS:

NC_000011.10:g.6616525_6616528del
NG_008653.1:g.7950_7953del
NM_000391.4:c.887-9_887-6delMANE SELECT
LRG_830t1:c.887-9_887-6del
LRG_830:g.7950_7953del
NC_000011.9:g.6637756_6637759del
NM_000391.3:c.887-9_887-6del

Links:

dbSNP: rs35039601

NCBI 1000 Genomes Browser:

rs35039601

Molecular consequence:

NM_000391.4:c.887-9_887-6del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000801145	Mayo Clinic Laboratories, Mayo Clinic	no assertion criteria provided	Benign (Oct 21, 2015)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000801145

Mayo Clinic Laboratories, Mayo Clinic

no assertion criteria provided

Benign
(Oct 21, 2015)

unknown

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000801145.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 10, 2023

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