NM_004618.5(TOP3A):c.899_900del (p.Tyr300fs) AND Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 6, 2018
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:: RCV000787954.2

Allele description [Variation Report for NM_004618.5(TOP3A):c.899_900del (p.Tyr300fs)]

NM_004618.5(TOP3A):c.899_900del (p.Tyr300fs)

Gene:

TOP3A:DNA topoisomerase III alpha [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_004618.5(TOP3A):c.899_900del (p.Tyr300fs)

HGVS:

NC_000017.11:g.18301901_18301902del
NM_001320759.2:c.614_615del
NM_004618.5:c.899_900delMANE SELECT
NP_001307688.1:p.Tyr205fs
NP_004609.1:p.Tyr300fs
NC_000017.10:g.18205215_18205216del
NM_004618.4:c.899_900delAT
p.Tyr300SerfsTer17

Protein change:

Y205fs

Links:

dbSNP: rs1597981046

NCBI 1000 Genomes Browser:

rs1597981046

Molecular consequence:

NM_001320759.2:c.614_615del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004618.5:c.899_900del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
Synonyms:: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 5
Identifiers:: MONDO: MONDO:0020845; MedGen: C4748184; OMIM: 618098

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000926976	Undiagnosed Diseases Network, NIH	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 6, 2018)	paternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000926976

Undiagnosed Diseases Network, NIH

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 6, 2018)

paternal

clinical testing

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
White	paternal	yes	1	1	not provided	not provided	not provided	clinical 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 Undiagnosed Diseases Network, NIH, SCV000926976.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	White	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	paternal	yes	not provided	blood	not provided		1	not provided	1	not provided

Last Updated: Mar 10, 2024

ClinVar

Relating variation to medicine