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NM_006231.4(POLE):c.2174-8G>A AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 14, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000664288.9

Allele description [Variation Report for NM_006231.4(POLE):c.2174-8G>A]

NM_006231.4(POLE):c.2174-8G>A

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.2174-8G>A
HGVS:
  • NC_000012.12:g.132667656C>T
  • NG_033840.1:g.24869G>A
  • NM_006231.4:c.2174-8G>AMANE SELECT
  • LRG_789t1:c.2174-8G>A
  • LRG_789:g.24869G>A
  • NC_000012.11:g.133244242C>T
  • NM_006231.2:c.2174-8G>A
  • NM_006231.3:c.2174-8G>A
Links:
dbSNP: rs117409343
NCBI 1000 Genomes Browser:
rs117409343
Molecular consequence:
  • NM_006231.4:c.2174-8G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000788166True Health Diagnostics
no assertion criteria provided
Likely benign
(Feb 14, 2018)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From True Health Diagnostics, SCV000788166.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024