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NM_001330701.2(AGTPBP1):c.-66del AND Neurodegeneration, childhood-onset, with cerebellar atrophy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 16, 2021
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:
RCV003136108.3

Allele description [Variation Report for NM_001330701.2(AGTPBP1):c.-66del]

NM_001330701.2(AGTPBP1):c.-66del

Genes:
LOC130001960:ATAC-STARR-seq lymphoblastoid silent region 19988 [Gene]
AGTPBP1:ATP/GTP binding carboxypeptidase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q21.33
Genomic location:
Preferred name:
NM_001330701.2(AGTPBP1):c.-66del
HGVS:
  • NC_000009.12:g.85741807del
  • NM_001286715.1:c.156del
  • NM_001286717.1:c.156del
  • NM_001330701.2:c.-66delMANE SELECT
  • NM_015239.3:c.-66del
  • NP_001273644.1:p.Arg53fs
  • NP_001273646.1:p.Arg53fs
  • NC_000009.11:g.88356722del
  • NM_001286715.1:c.156delG
Protein change:
R53fs
Links:
dbSNP: rs549877950
NCBI 1000 Genomes Browser:
rs549877950
Molecular consequence:
  • NM_001330701.2:c.-66del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_015239.3:c.-66del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001286715.1:c.156del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001286717.1:c.156del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Neurodegeneration, childhood-onset, with cerebellar atrophy
Identifiers:
MONDO: MONDO:0032650; MedGen: C4748934; OMIM: 618276

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003823041Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 16, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 Revvity Omics, Revvity, SCV003823041.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 16, 2024