NM_199420.4(POLQ):c.6859A>C (p.Lys2287Gln) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 23, 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:: RCV004653894.1

Allele description [Variation Report for NM_199420.4(POLQ):c.6859A>C (p.Lys2287Gln)]

NM_199420.4(POLQ):c.6859A>C (p.Lys2287Gln)

Gene:

POLQ:DNA polymerase theta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q13.33

Genomic location:

Preferred name:

NM_199420.4(POLQ):c.6859A>C (p.Lys2287Gln)

HGVS:

NC_000003.12:g.121467627T>G
NM_199420.4:c.6859A>CMANE SELECT
NP_955452.3:p.Lys2287Gln
NC_000003.11:g.121186474T>G
NM_199420.3:c.6859A>C

Protein change:

K2287Q

Molecular consequence:

NM_199420.4:c.6859A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005148858	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 23, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005148858

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 23, 2024)

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, SCV005148858.1

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

Description

The p.K2287Q variant (also known as c.6859A>C), located in coding exon 24 of the POLQ gene, results from an A to C substitution at nucleotide position 6859. The lysine at codon 2287 is replaced by glutamine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant 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: Aug 11, 2024

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