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NR_030286.1(MIR559):n.278_23134del

Variation ID: Help
12776
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jan 1, 2009
Number of submission(s):
1
Condition(s):
Hereditary nonpolyposis colorectal cancer type 8[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NR_030286.1(MIR559):n.278_23134del

Allele ID:
27815
Variant type:
Deletion
Cytogenetic location:
2p21
Genomic location:
Chr2: 47377952 - 47400851 (on Assembly GRCh38)
Other names:
  • 22.8-KB DEL
HGVS:
NC_000002.12:g.(47377952_47378002)_(47400808_47400851)del (GRCh38)
Note:
NCBI staff reviewed the sequence information reported in PubMed 19098912 Supplementary Fig. 3 to determine the location of this allele on the current reference sequence.
Links:

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Jan 1, 2009)
no assertion criteria providedliterature only
  • Hereditary nonpolyposis colorectal cancer type 8[MedGen | OMIM]
unknownOMIMSCV000033861.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedunknownnot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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