NM_002693.3(POLG):c.3014_3057del (p.Val1005fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 21, 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:: RCV002317797.9

Allele description [Variation Report for NM_002693.3(POLG):c.3014_3057del (p.Val1005fs)]

NM_002693.3(POLG):c.3014_3057del (p.Val1005fs)

Genes:

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

Variant type:

Deletion

Cytogenetic location:

15q26.1

Genomic location:

Preferred name:

NM_002693.3(POLG):c.3014_3057del (p.Val1005fs)

HGVS:

NC_000015.10:g.89319283_89319326del
NG_008218.2:g.20478_20521del
NM_001126131.2:c.3014_3057del
NM_002693.3:c.3014_3057delMANE SELECT
NP_001119603.1:p.Val1005fs
NP_002684.1:p.Val1005fs
LRG_765t1:c.3014_3057del44
LRG_765:g.20478_20521del
NC_000015.9:g.89862514_89862557del
NM_002693.2:c.3014_3057del44
NM_002693.2:c.3014_3057delTGAGGGAGTTGAACCTCCCAGTGGACAGGACTGAGGGTGGCTGG

Protein change:

V1005fs

Links:

dbSNP: rs886041276

NCBI 1000 Genomes Browser:

rs886041276

Molecular consequence:

NM_001126131.2:c.3014_3057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_002693.3:c.3014_3057del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000851342	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Nov 21, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000851342

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Nov 21, 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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000851342.4

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

Description

The c.3014_3057del44 variant, located in coding exon 18 of the POLG gene, results from a deletion of 44 nucleotides at nucleotide positions 3014 to 3057, causing a translational frameshift with a predicted alternate stop codon (p.V1005Dfs*27). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Jun 9, 2024

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