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NM_004181.5(UCHL1):c.349_364del (p.Phe117fs) AND not provided

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Jan 1, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001268796.14

Allele description [Variation Report for NM_004181.5(UCHL1):c.349_364del (p.Phe117fs)]

NM_004181.5(UCHL1):c.349_364del (p.Phe117fs)

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.349_364del (p.Phe117fs)
HGVS:
  • NC_000004.12:g.41261738_41261753del
  • NG_012931.1:g.9858_9873del
  • NM_004181.5:c.349_364delMANE SELECT
  • NP_004172.2:p.Phe117fs
  • NC_000004.11:g.41263755_41263770del
  • NM_004181.4:c.349_364del
Protein change:
F117fs
Links:
OMIM: 191342.0007; dbSNP: rs1781070341
NCBI 1000 Genomes Browser:
rs1781070341
Molecular consequence:
  • NM_004181.5:c.349_364del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001447979Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 23, 2020) 		germlineclinical testing

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

SCV004011531CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Jan 1, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot provided1not 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 Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001447979.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot providednot providednot providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV004011531.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided

Description

UCHL1: PP1:Strong, PVS1:Strong, PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Oct 20, 2024