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NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) AND Seizure

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 12, 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:
RCV000718344.1

Allele description

NM_000391.4(TPP1):c.260A>G (p.Asp87Gly)

Gene:
TPP1:tripeptidyl peptidase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly)
Other names:
p.D87G:GAT>GGT
HGVS:
  • NC_000011.10:g.6617746T>C
  • NG_008653.1:g.6716A>G
  • NM_000391.4:c.260A>GMANE SELECT
  • NP_000382.3:p.Asp87Gly
  • LRG_830t1:c.260A>G
  • LRG_830:g.6716A>G
  • LRG_830p1:p.Asp87Gly
  • NC_000011.9:g.6638977T>C
  • NM_000391.3:c.260A>G
Protein change:
D87G
Links:
dbSNP: rs148064565
NCBI 1000 Genomes Browser:
rs148064565
Molecular consequence:
  • NM_000391.4:c.260A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000849206Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))		Likely benign
(Nov 12, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000849206.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign) ;Sub-population frequency in support of benign classification (not ava blue, manual h-w)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Aug 23, 2022