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NM_000391.4(TPP1):c.1266G>C (p.Gln422His) AND Autosomal recessive spinocerebellar ataxia 7

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 2019
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:
RCV001252369.2

Allele description [Variation Report for NM_000391.4(TPP1):c.1266G>C (p.Gln422His)]

NM_000391.4(TPP1):c.1266G>C (p.Gln422His)

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.1266G>C (p.Gln422His)
Other names:
5271G>C; p.Q422H:CAG>CAC
HGVS:
  • NC_000011.10:g.6615442C>G
  • NG_008653.1:g.9020G>C
  • NM_000391.4:c.1266G>CMANE SELECT
  • NP_000382.3:p.Gln422His
  • LRG_830t1:c.1266G>C
  • LRG_830:g.9020G>C
  • LRG_830p1:p.Gln422His
  • NC_000011.9:g.6636673C>G
  • NM_000391.3:c.1266G>C
  • O14773:p.Gln422His
Protein change:
Q422H
Links:
UniProtKB: O14773#VAR_009610; UniProtKB/Swiss-Prot: VAR_009610; dbSNP: rs121908200
NCBI 1000 Genomes Browser:
rs121908200
Molecular consequence:
  • NM_000391.4:c.1266G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive spinocerebellar ataxia 7
Synonyms:
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Identifiers:
MONDO: MONDO:0012235; MedGen: C1836474; Orphanet: 284324; OMIM: 609270

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001428124Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
no assertion criteria provided
Likely pathogenic
(Jan 1, 2019) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, SCV001428124.1

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

Last Updated: Sep 29, 2024