NM_002693.3(POLG):c.1586-5del AND Hereditary spastic paraplegia

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 17, 2022
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:: RCV001847820.11

Allele description [Variation Report for NM_002693.3(POLG):c.1586-5del]

NM_002693.3(POLG):c.1586-5del

Genes:

POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
MIR6766:microRNA 6766 [Gene - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q26.1

Genomic location:

Preferred name:

NM_002693.3(POLG):c.1586-5del

HGVS:

NC_000015.10:g.89326743del
NG_008218.2:g.13053del
NM_001126131.2:c.1586-5del
NM_002693.3:c.1586-5delMANE SELECT
LRG_765t1:c.1586-5del
LRG_765:g.13053del
NC_000015.9:g.89869974del
NC_000015.9:g.89869974delG
NM_002693.2:c.1586-5del
NM_002693.2:c.1586-5delC
NR_106824.1:n.68del

Links:

dbSNP: rs2307434

NCBI 1000 Genomes Browser:

rs2307434

Molecular consequence:

NM_001126131.2:c.1586-5del - intron variant - [Sequence Ontology: SO:0001627]
NM_002693.3:c.1586-5del - intron variant - [Sequence Ontology: SO:0001627]
NR_106824.1:n.68del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hereditary spastic paraplegia
Synonyms:: Familial spastic paraparesis
Identifiers:: MONDO: MONDO:0019064; MedGen: C0037773; OMIM: PS303350

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002105556	Genome Diagnostics Laboratory, The Hospital for Sick Children	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jan 17, 2022)	germline	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

SCV002105556

Genome Diagnostics Laboratory, The Hospital for Sick Children

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Jan 17, 2022)

germline

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
not provided	germline	yes	not provided	not provided	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 Genome Diagnostics Laboratory, The Hospital for Sick Children, SCV002105556.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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