NM_000113.3(TOR1A):c.961del (p.Thr321fs) AND Inborn genetic diseases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 21, 2019
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:: RCV001266580.2

Allele description [Variation Report for NM_000113.3(TOR1A):c.961del (p.Thr321fs)]

NM_000113.3(TOR1A):c.961del (p.Thr321fs)

Gene:

TOR1A:torsin family 1 member A [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_000113.3(TOR1A):c.961del (p.Thr321fs)

HGVS:

NC_000009.12:g.129814013del
NG_008049.1:g.15153del
NM_000113.3:c.961delMANE SELECT
NP_000104.1:p.Thr321fs
LRG_1029t1:c.961del
LRG_1029:g.15153del
LRG_1029p1:p.Thr321fs
NC_000009.11:g.132576292del
NM_000113.2:c.961delA

Protein change:

T321fs

Links:

OMIM: 605204.0007; dbSNP: rs774552108

NCBI 1000 Genomes Browser:

rs774552108

Molecular consequence:

NM_000113.3:c.961del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001444756	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Likely pathogenic (May 21, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001444756

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Likely pathogenic
(May 21, 2019)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Hispanic	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton.

Nery FC, Zeng J, Niland BP, Hewett J, Farley J, Irimia D, Li Y, Wiche G, Sonnenberg A, Breakefield XO.

J Cell Sci. 2008 Oct 15;121(Pt 20):3476-86. doi: 10.1242/jcs.029454. Epub 2008 Sep 30.

PubMed [citation]

PMID:: 18827015
PMCID:: PMC3539201

Details of each submission

From Ambry Genetics, SCV001444756.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Hispanic	1	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Jan 7, 2023

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