NM_025077.4(TOE1):c.757C>T (p.Arg253Trp) AND Pontocerebellar hypoplasia type 7

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 16, 2017
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:: RCV000851257.1

Allele description [Variation Report for NM_025077.4(TOE1):c.757C>T (p.Arg253Trp)]

NM_025077.4(TOE1):c.757C>T (p.Arg253Trp)

Gene:

TOE1:target of EGR1, exonuclease [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_025077.4(TOE1):c.757C>T (p.Arg253Trp)

HGVS:

NC_000001.11:g.45342847C>T
NG_008189.1:g.2624G>A
NM_025077.4:c.757C>TMANE SELECT
NP_079353.3:p.Arg253Trp
LRG_220:g.2624G>A
NC_000001.10:g.45808519C>T
NM_025077.3:c.757C>T

Protein change:

R253W

Links:

dbSNP: rs368182654

NCBI 1000 Genomes Browser:

rs368182654

Molecular consequence:

NM_025077.4:c.757C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pontocerebellar hypoplasia type 7
Identifiers:: MONDO: MONDO:0013993; MedGen: C3554226; Orphanet: 284339; OMIM: 614969

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LOC130068040 [Homo sapiens]
LOC130068040 [Homo sapiens]
Gene ID:130068040

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000993512	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic (Jul 16, 2017)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000993512

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic
(Jul 16, 2017)

unknown

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.

Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, et al.

Nat Genet. 2017 Mar;49(3):457-464. doi: 10.1038/ng.3762. Epub 2017 Jan 16.

PubMed [citation]

PMID:: 28092684
PMCID:: PMC5325768

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV000993512.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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