NM_199420.4(POLQ):c.32G>A (p.Arg11Gln) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 27, 2024
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:: RCV004049497.2

Allele description [Variation Report for NM_199420.4(POLQ):c.32G>A (p.Arg11Gln)]

NM_199420.4(POLQ):c.32G>A (p.Arg11Gln)

Genes:

POLQ:DNA polymerase theta [Gene - OMIM - HGNC]
LOC112872292:Sharpr-MPRA regulatory region 30 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

3q13.33

Genomic location:

Preferred name:

NM_199420.4(POLQ):c.32G>A (p.Arg11Gln)

HGVS:

NC_000003.12:g.121545846C>T
NG_061351.1:g.105C>T
NM_199420.4:c.32G>AMANE SELECT
NP_955452.3:p.Arg11Gln
NC_000003.11:g.121264693C>T
NM_199420.3:c.32G>A

Protein change:

R11Q

Molecular consequence:

NM_199420.4:c.32G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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thioredoxin reductase-like selenoprotein T precursor [Homo sapiens]
thioredoxin reductase-like selenoprotein T precursor [Homo sapiens]
gi|42789380|ref|NP_057359.2|

Protein
cytochrome P450 2B10 precursor [Mus musculus]
cytochrome P450 2B10 precursor [Mus musculus]
gi|50080153|ref|NP_034129.1|

Protein
LOC127883619 [Homo sapiens]
LOC127883619 [Homo sapiens]
Gene ID:127883619

Gene
transcription factor [Schizosaccharomyces pombe]
transcription factor [Schizosaccharomyces pombe]
Gene ID:2539906

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002607063	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 27, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002607063

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 27, 2024)

germline

clinical testing

Citation Link

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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, SCV002607063.3

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

Description

The p.R11Q variant (also known as c.32G>A), located in coding exon 1 of the POLQ gene, results from a G to A substitution at nucleotide position 32. The arginine at codon 11 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Oct 13, 2024

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