NM_002693.3(POLG):c.3483-4_3497del AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 21, 2021
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:: RCV001838129.2

Allele description [Variation Report for NM_002693.3(POLG):c.3483-4_3497del]

NM_002693.3(POLG):c.3483-4_3497del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

15q26.1

Genomic location:

Preferred name:

NM_002693.3(POLG):c.3483-4_3497del

HGVS:

NC_000015.10:g.89317522_89317540del
NG_008218.2:g.22256_22274del
NG_011736.1:g.78560_78578del
NM_001126131.2:c.3483-4_3497del
NM_002693.3:c.3483-4_3497delMANE SELECT
LRG_765t1:c.3483-4_3497del
LRG_500:g.78560_78578del
LRG_765:g.22256_22274del
NC_000015.9:g.89860753_89860771del
NM_002693.2:c.3483-4_3497del
NM_002693.2:c.3483-4_3497del19

Links:

dbSNP: rs756325504

NCBI 1000 Genomes Browser:

rs756325504

Molecular consequence:

NM_001126131.2:c.3483-4_3497del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_002693.3:c.3483-4_3497del - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002098228	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Dec 21, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002098228

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Dec 21, 2021)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV002098228.2

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

Description

Reported previously in a patient with ophthalmoplegia and ptosis; segregation information not available (Heighton et al., 2019); Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31521625)

#	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 3, 2024

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