NM_000391.4(TPP1):c.381-10dup AND Ceroid lipofuscinosis neuronal 2

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Likely pathogenic(1) (Last evaluated: Sep 16, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000678677.2

Allele description [Variation Report for NM_000391.4(TPP1):c.381-10dup]

NM_000391.4(TPP1):c.381-10dup

Gene:
TPP1:tripeptidyl peptidase 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000391.4(TPP1):c.381-10dup
HGVS:
  • NC_000011.10:g.6617438dup
  • NG_008653.1:g.7024dup
  • NM_000391.4:c.381-10dupMANE SELECT
  • LRG_830t1:c.381-10dup
  • LRG_830:g.7024dup
  • NC_000011.9:g.6638668_6638669insA
  • NC_000011.9:g.6638669dup
  • NM_000391.3:c.381-10dup
  • NM_000391.3:c.381-10dupT
  • NM_000391.4:c.381-10dupTMANE SELECT
Links:
dbSNP: rs146315473
NCBI 1000 Genomes Browser:
rs146315473
Molecular consequence:
  • NM_000391.4:c.381-10dup - intron variant - [Sequence Ontology: SO:0001627]
Observations:
2

Condition(s)

Name:
Ceroid lipofuscinosis neuronal 2 (CLN2)
Synonyms:
TPP1-Related Neuronal Ceroid-Lipofuscinosis
Identifiers:
MONDO: MONDO:0008769; MedGen: C1876161; Orphanet: 168491; Orphanet: 228349; Orphanet: 79264; OMIM: 204500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000803211Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Geneticsno assertion criteria providedLikely pathogenic
(Feb 5, 2018)
germlineclinical testing

SCV001459954Natera, Inc.no assertion criteria providedBenign
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
Indian Muslimgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics, SCV000803211.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Indian Muslim1not providednot providedclinical testingnot provided
2Indian Muslim1not providednot providedclinical testingnot provided

Description

The observed variant g.7024dupT was neither found in 1000 Genomes nor in ExAC databases. The in-silico prediction of the given variant is disease causing by MutationTaster2.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

From Natera, Inc., SCV001459954.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2021

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