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NM_000391.4(TPP1):c.959T>G (p.Val320Gly) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 11, 2019
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:
RCV001281468.2

Allele description [Variation Report for NM_000391.4(TPP1):c.959T>G (p.Val320Gly)]

NM_000391.4(TPP1):c.959T>G (p.Val320Gly)

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.959T>G (p.Val320Gly)
HGVS:
  • NC_000011.10:g.6616431A>C
  • NG_008653.1:g.8031T>G
  • NM_000391.4:c.959T>GMANE SELECT
  • NP_000382.3:p.Val320Gly
  • LRG_830t1:c.959T>G
  • LRG_830:g.8031T>G
  • LRG_830p1:p.Val320Gly
  • NC_000011.9:g.6637662A>C
  • NM_000391.3:c.959T>G
Protein change:
V320G
Links:
dbSNP: rs1314521780
NCBI 1000 Genomes Browser:
rs1314521780
Molecular consequence:
  • NM_000391.4:c.959T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001468776New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Jun 11, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001468776.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024