U.S. flag

An official website of the United States government

NM_006231.4(POLE):c.840A>C (p.Lys280Asn) AND Colorectal cancer, susceptibility to, 12

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 22, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000817860.8

Allele description [Variation Report for NM_006231.4(POLE):c.840A>C (p.Lys280Asn)]

NM_006231.4(POLE):c.840A>C (p.Lys280Asn)

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.840A>C (p.Lys280Asn)
HGVS:
  • NC_000012.12:g.132676615T>G
  • NG_033840.1:g.15910A>C
  • NM_006231.4:c.840A>CMANE SELECT
  • NP_006222.2:p.Lys280Asn
  • NP_006222.2:p.Lys280Asn
  • LRG_789t1:c.840A>C
  • LRG_789:g.15910A>C
  • LRG_789p1:p.Lys280Asn
  • NC_000012.11:g.133253201T>G
  • NM_006231.2:c.840A>C
  • NM_006231.3:c.840A>C
Protein change:
K280N
Links:
dbSNP: rs908089476
NCBI 1000 Genomes Browser:
rs908089476
Molecular consequence:
  • NM_006231.4:c.840A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Colorectal cancer, susceptibility to, 12 (CRCS12)
Synonyms:
COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24
Identifiers:
MONDO: MONDO:0014038; MedGen: C3554460; Orphanet: 220460; OMIM: 615083

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004203558Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jun 22, 2023)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Baylor Genetics, SCV004203558.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 16, 2024