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NM_207346.3(TSEN54):c.984_988del (p.Arg330fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 18, 2024
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:
RCV003837252.1

Allele description

NM_207346.3(TSEN54):c.984_988del (p.Arg330fs)

Gene:
TSEN54:tRNA splicing endonuclease subunit 54 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q25.1
Genomic location:
Preferred name:
NM_207346.3(TSEN54):c.984_988del (p.Arg330fs)
HGVS:
  • NC_000017.11:g.75522065_75522069del
  • NG_013041.1:g.10538_10542del
  • NM_207346.3:c.984_988delMANE SELECT
  • NP_997229.2:p.Arg330fs
  • NC_000017.10:g.73518143_73518147del
  • NC_000017.10:g.73518146_73518150del
Protein change:
R330fs
Molecular consequence:
  • NM_207346.3:c.984_988del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV004638807Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 18, 2024) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, et al.

Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204.

PubMed [citation]
PMID:
18711368

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.

Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R; PCH Consortium., Dobyns WB, et al.

Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15.

PubMed [citation]
PMID:
20952379
PMCID:
PMC9136852
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV004638807.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Arg330Aspfs*4) in the TSEN54 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSEN54 are known to be pathogenic (PMID: 18711368, 20952379). This variant is present in population databases (no rsID available, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with TSEN54-related conditions. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Mar 5, 2024