NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 2017
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:: RCV000515314.7

Allele description [Variation Report for NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)]

NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)

Gene:

TSEN54:tRNA splicing endonuclease subunit 54 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.1

Genomic location:

Preferred name:

NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)

HGVS:

NC_000017.11:g.75522000G>T
NG_013041.1:g.10473G>T
NM_207346.3:c.919G>TMANE SELECT
NP_997229.2:p.Ala307Ser
NC_000017.10:g.73518081G>T
NM_207346.2:c.919G>T
Q7Z6J9:p.Ala307Ser

Protein change:

A307S; ALA307SER

Links:

UniProtKB: Q7Z6J9#VAR_054813; OMIM: 608755.0001; OMIM: 608755.0002; dbSNP: rs113994152

NCBI 1000 Genomes Browser:

rs113994152

Molecular consequence:

NM_207346.3:c.919G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pontocerebellar hypoplasia type 4 (PCH4)
Synonyms:: Encephalopathy fatal infantile with olivopontocerebellar hypoplasia
Identifiers:: MONDO: MONDO:0009166; MedGen: C1856974; Orphanet: 166063; OMIM: 225753

Name:: Pontocerebellar hypoplasia type 2A (PCH2A)
Synonyms:: PONTOCEREBELLAR HYPOPLASIA WITH PROGRESSIVE CEREBRAL ATROPHY; VOLENDAM NEURODEGENERATIVE DISEASE
Identifiers:: MONDO: MONDO:0010190; MedGen: C1848526; Orphanet: 2524; OMIM: 277470

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000807649	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 1, 2017)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 18711368, 23177318, 24886362, 25741868, 25326635

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000807649

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 1, 2017)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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

Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2.

Zafeiriou DI, Ververi A, Tsitlakidou A, Anastasiou A, Vargiami E.

Neuromuscul Disord. 2013 Feb;23(2):116-9. doi: 10.1016/j.nmd.2012.08.004. Epub 2012 Nov 22.

PubMed [citation]

PMID:: 23177318

See all PubMed Citations (5)

Details of each submission

From Baylor Genetics, SCV000807649.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing (GTR000508680.4)	PubMed (5)

Description

This variant has been previously reported as disease-causing and was found six times in our laboratory, either homozygous or compound heterozygous, in individuals with pontocerebellar hypoplasia. Heterozygotes would be expected to be asymptomatic carriers.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided	(GTR000508680.4)	not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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