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

Clinical significance:Likely benign (Last evaluated: Nov 12, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000718344.1

Allele description [Variation Report for NM_000391.4(TPP1):c.260A>G (p.Asp87Gly)]

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:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000849206Ambry Geneticscriteria provided, single submitter
Likely benign
(Nov 12, 2018)
germlineclinical testing

Citation Link

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: Nov 6, 2021

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