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NM_004181.5(UCHL1):c.24del (p.Asn9fs) AND UCHL1-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 28, 2024
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:
RCV004732286.1

Allele description [Variation Report for NM_004181.5(UCHL1):c.24del (p.Asn9fs)]

NM_004181.5(UCHL1):c.24del (p.Asn9fs)

Gene:
UCHL1:ubiquitin C-terminal hydrolase L1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4p13
Genomic location:
Preferred name:
NM_004181.5(UCHL1):c.24del (p.Asn9fs)
HGVS:
  • NC_000004.12:g.41257000del
  • NG_012931.1:g.5120del
  • NG_102571.2:g.57del
  • NM_004181.5:c.24delMANE SELECT
  • NP_004172.2:p.Asn9fs
  • NC_000004.11:g.41259017del
  • NM_004181.4:c.24delC
Protein change:
N9fs
Molecular consequence:
  • NM_004181.5:c.24del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
UCHL1-related disorder
Synonyms:
UCHL1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005335842PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(May 28, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005335842.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The UCHL1 c.24delC variant is predicted to result in a frameshift and premature protein termination (p.Asn9Thrfs*5). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Loss of function variants, such as this frameshift variant, in UCHL1 are an established mechanism of autosomal dominant disease (Park et al. 2022. PubMed ID: 35986737). Of note, an upstream loss-of-function variant has been reported as causative (Park et al. 2022. PubMed ID: 35986737). Given the evidence, we interpret this variant as likely pathogenic.

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

Last Updated: Oct 8, 2024