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NR_040073.1(MIR181A1HG):n.363+1862C>A

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: May 10, 2017)
Accession:
VCV000427754.1
Variation ID:
427754
Description:
single nucleotide variant
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NR_040073.1(MIR181A1HG):n.363+1862C>A

Allele ID
417643
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q32.1
Genomic location
1: 198898549 (GRCh38) GRCh38 UCSC
1: 198867678 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.198867678G>T
NC_000001.11:g.198898549G>T
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:198898548:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.20427 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.71726
1000 Genomes Project 0.79573
The Genome Aggregation Database (gnomAD) 0.71768
Links
ClinGen: CA15074967
dbSNP: rs60639710
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided - RCV000509081.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MIR181A1HG - - - GRCh38 4 9

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(-)
no assertion criteria provided
Method: case-control
Acute myeloid leukemia with maturation
Allele origin: germline
Fujian Institute of Hematology,Fujian Medical University
Accession: SCV000577911.1
Submitted: (May 10, 2017)
Evidence details
Publications
PubMed (1)
Comment:
This variant contributes to development of AML-M2

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Lentivirus-mediated RNA interference targeting <i>FAMLF-1</i> inhibits cell growth and enhances cell differentiation of acute myeloid leukemia partially differentiated cells via inhibition of AKT and c-MYC. Huang YM Oncotarget 2017 PMID: 29254171

Text-mined citations for rs60639710...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021