NM_006231.4(POLE):c.1760A>G (p.Lys587Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 10, 2023
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:: RCV003317342.1

Allele description [Variation Report for NM_006231.4(POLE):c.1760A>G (p.Lys587Arg)]

NM_006231.4(POLE):c.1760A>G (p.Lys587Arg)

Gene:

POLE:DNA polymerase epsilon, catalytic subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.33

Genomic location:

Preferred name:

NM_006231.4(POLE):c.1760A>G (p.Lys587Arg)

HGVS:

NC_000012.12:g.132672249T>C
NG_033840.1:g.20276A>G
NM_006231.4:c.1760A>GMANE SELECT
NP_006222.2:p.Lys587Arg
NP_006222.2:p.Lys587Arg
LRG_789t1:c.1760A>G
LRG_789:g.20276A>G
LRG_789p1:p.Lys587Arg
NC_000012.11:g.133248835T>C
NM_006231.2:c.1760A>G
NM_006231.3:c.1760A>G
NM_006231.4:c.1760A>G

Protein change:

K587R

Links:

dbSNP: rs750826256

NCBI 1000 Genomes Browser:

rs750826256

Molecular consequence:

NM_006231.4:c.1760A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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SAMN34998731 (1)
SRA
4-aminobutyrate aminotransferase, mitochondrial isoform 3 precursor [Homo sapien...
4-aminobutyrate aminotransferase, mitochondrial isoform 3 precursor [Homo sapiens]
gi|1897357944|ref|NP_001373535.1|

Protein
Sinopodisma qinlingensis 16S ribosomal RNA gene, partial sequence; mitochondrial
Sinopodisma qinlingensis 16S ribosomal RNA gene, partial sequence; mitochondrial
gi|87046106|gb|DQ366838.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004021045	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Jun 10, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004021045

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Jun 10, 2023)

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004021045.1

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

#	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: Nov 10, 2024

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