U.S. flag

An official website of the United States government

NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del) AND Colorectal cancer, susceptibility to, 12

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 15, 2018
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:
RCV000226113.8

Allele description [Variation Report for NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del)]

NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del)

Gene:
POLE:DNA polymerase epsilon, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
12q24.33
Genomic location:
Preferred name:
NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del)
HGVS:
  • NC_000012.12:g.132639147TGT[1]
  • NG_033840.1:g.53373ACA[1]
  • NM_006231.2:c.5528_5530del
  • NM_006231.4:c.5525ACA[1]MANE SELECT
  • NP_006222.2:p.Asn1843del
  • LRG_789:g.53373ACA[1]
  • NC_000012.11:g.133215733TGT[1]
  • NC_000012.11:g.133215733_133215735del
  • NM_006231.2:c.5528_5530delACA
  • NM_006231.3:c.5528_5530del
  • NM_006231.4:c.5528_5530delMANE SELECT
Protein change:
N1843del
Links:
dbSNP: rs868246375
NCBI 1000 Genomes Browser:
rs868246375
Molecular consequence:
  • NM_006231.4:c.5525ACA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000785929Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Uncertain significance
(Jan 15, 2018) 		unknownclinical testing

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000785929.2

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

Last Updated: Oct 8, 2024