NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) AND Angelman syndrome

Germline classification:: Pathogenic (1 submission)
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:: RCV001804926.2

Allele description [Variation Report for NM_000391.4(TPP1):c.379C>T (p.Arg127Ter)]

NM_000391.4(TPP1):c.379C>T (p.Arg127Ter)

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.379C>T (p.Arg127Ter)

Other names:

p.R127*:CGA>TGA

HGVS:

NC_000011.10:g.6617627G>A
NG_008653.1:g.6835C>T
NM_000391.4:c.379C>TMANE SELECT
NP_000382.3:p.Arg127Ter
LRG_830t1:c.379C>T
LRG_830:g.6835C>T
LRG_830p1:p.Arg127Ter
NC_000011.9:g.6638858G>A
NM_000391.3:c.379C>T
p.Arg127Ter

Protein change:

R127*

Links:

dbSNP: rs756564767

NCBI 1000 Genomes Browser:

rs756564767

Molecular consequence:

NM_000391.4:c.379C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Angelman syndrome (AS)
Synonyms:: HAPPY PUPPET SYNDROME; Happy puppet syndrome (formerly)
Identifiers:: MONDO: MONDO:0007113; MedGen: C0162635; Orphanet: 72; OMIM: 105830

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002053839	Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	inherited	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002053839

Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

inherited

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India, SCV002053839.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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