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NM_005154.5(USP8):c.952_955dup (p.Pro319fs) AND Hereditary spastic paraplegia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 20, 2022
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:
RCV002867115.2

Allele description [Variation Report for NM_005154.5(USP8):c.952_955dup (p.Pro319fs)]

NM_005154.5(USP8):c.952_955dup (p.Pro319fs)

Gene:
USP8:ubiquitin specific peptidase 8 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q21.2
Genomic location:
Preferred name:
NM_005154.5(USP8):c.952_955dup (p.Pro319fs)
HGVS:
  • NC_000015.10:g.50476951_50476954dup
  • NG_047101.1:g.57575_57578dup
  • NG_047101.2:g.57548_57551dup
  • NM_001128610.3:c.952_955dup
  • NM_001283049.2:c.721_724dup
  • NM_005154.5:c.952_955dupMANE SELECT
  • NP_001122082.1:p.Pro319fs
  • NP_001269978.1:p.Pro242fs
  • NP_005145.3:p.Pro319fs
  • NC_000015.9:g.50769145_50769146insTCAC
  • NC_000015.9:g.50769148_50769151dup
Protein change:
P242fs
Molecular consequence:
  • NM_001128610.3:c.952_955dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001283049.2:c.721_724dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005154.5:c.952_955dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary spastic paraplegia
Synonyms:
Familial spastic paraparesis
Identifiers:
MONDO: MONDO:0019064; MedGen: C0037773; OMIM: PS303350

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003240553Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 20, 2022) 		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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV003240553.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with USP8-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro319Hisfs*9) in the USP8 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in USP8 cause disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024