NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter) AND not provided

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

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 30, 2020
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:: RCV000579250.3

Allele description

NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

Preferred name:

NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter)

HGVS:

NC_000015.10:g.89317379G>A
NG_008218.2:g.22417C>T
NG_011736.1:g.78417G>A
NM_001126131.2:c.3640C>T
NM_002693.2:c.3640C>T
NM_002693.3:c.3640C>TMANE SELECT
NP_001119603.1:p.Gln1214Ter
NP_002684.1:p.Gln1214Ter
NP_002684.1:p.Gln1214Ter
LRG_765t1:c.3640C>T
LRG_500:g.78417G>A
LRG_765:g.22417C>T
LRG_765p1:p.Gln1214Ter
NC_000015.9:g.89860610G>A

Protein change:

Q1214*

Links:

dbSNP: rs781256643

NCBI 1000 Genomes Browser:

rs781256643

Molecular consequence:

NM_001126131.2:c.3640C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_002693.2:c.3640C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_002693.3:c.3640C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:: MedGen: CN517202

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
SCV000680672	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 30, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000680672

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 30, 2020)

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, SCV000680672.3

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

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation as the last 26 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; This variant is associated with the following publications: (PMID: 32347949, 21880868)

#	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: Oct 30, 2021

ClinVar

Relating variation to medicine