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NM_000391.4(TPP1):c.1495C>A (p.Pro499Thr) AND Neuronal ceroid lipofuscinosis 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 29, 2020
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:
RCV001836357.1

Allele description [Variation Report for NM_000391.4(TPP1):c.1495C>A (p.Pro499Thr)]

NM_000391.4(TPP1):c.1495C>A (p.Pro499Thr)

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.1495C>A (p.Pro499Thr)
HGVS:
  • NC_000011.10:g.6614922G>T
  • NG_008653.1:g.9540C>A
  • NM_000391.4:c.1495C>AMANE SELECT
  • NP_000382.3:p.Pro499Thr
  • LRG_830t1:c.1495C>A
  • LRG_830:g.9540C>A
  • LRG_830p1:p.Pro499Thr
  • NC_000011.9:g.6636153G>T
  • NM_000391.3:c.1495C>A
Protein change:
P499T
Links:
dbSNP: rs201126448
NCBI 1000 Genomes Browser:
rs201126448
Molecular consequence:
  • NM_000391.4:c.1495C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neuronal ceroid lipofuscinosis 2
Synonyms:
JANSKY-BIELSCHOWSKY DISEASE NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE; 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002094800Natera, Inc.
no assertion criteria provided
Uncertain significance
(Jan 29, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002094800.1

#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: Sep 29, 2024