NM_002693.3(POLG):c.1586-5del AND Inborn genetic diseases

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 12, 2016
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:: RCV002314677.8

Allele description

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

Genes:

POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
POLGARF:POLG alternative reading frame [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]

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
SCV000848520	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Benign (Aug 12, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000848520

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Benign
(Aug 12, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000848520.3

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

Description

This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Apr 20, 2024

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