NC_000002.11:g.(86491165_86509292)_(86509366_86565146)dup AND Hereditary spastic paraplegia 31

Germline classification:: Uncertain significance (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:: RCV001391397.1

Allele description [Variation Report for NC_000002.11:g.(86491165_86509292)_(86509366_86565146)dup]

NC_000002.11:g.(86491165_86509292)_(86509366_86565146)dup

Gene:: REEP1:receptor accessory protein 1 [Gene - OMIM - HGNC]
Variant type:: Duplication
Cytogenetic location:: 2p11.2
Genomic location:: Chr2: 86491165 - 86565146 (on Assembly GRCh37)
Preferred name:: NC_000002.11:g.(86491165_86509292)_(86509366_86565146)dup
HGVS:: NC_000002.11:g.(86491165_86509292)_(86509366_86565146)dup
This HGVS expression did not pass validation
Observations:: 1

Condition(s)

Name:: Hereditary spastic paraplegia 31
Synonyms:: Spastic paraplegia 31, autosomal dominant
Identifiers:: MONDO: MONDO:0012453; MedGen: C1853247; Orphanet: 101011; OMIM: 610250

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001451286	Paris Brain Institute, Inserm - ICM	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	unknown	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

SCV001451286

Paris Brain Institute, Inserm - ICM

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

unknown

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	unknown	yes	1	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 Paris Brain Institute, Inserm - ICM, SCV001451286.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine