rs3842530
Variant names:
Your query was ambiguous. Multiple possible variants found:
- chr1-209432291-TAGCAGCAGCAGCAGCAGCAGCAGCAGC-T
- chr1-209432291-TAGCAGCAGCAGCAGCAGCAGCAGCAGC-TAGC
- chr1-209432291-TAGCAGCAGCAGCAGCAGCAGCAGCAGC-TAGCAGC
- chr1-209432291-TAGCAGCAGCAGCAGCAGCAGCAGCAGC-TAGCAGCAGC
- chr1-209432291-TAGCAGCAGCAGCAGCAGCAGCAGCAGC-TAGCAGCAGCAGC
- chr1-209432291-TAGCAGCAGCAGCAGCAGCAGCAGCAGC-TAGCAGCAGCAGCAGC
- chr1-209432291-TAGCAGCAGCAGCAGCAGCAGCAGCAGC-TAGCAGCAGCAGCAGCAGC
- chr1-209432291-TAGCAGCAGCAGCAGCAGCAGCAGCAGC-TAGCAGCAGCAGCAGCAGCAGC
- chr1-209432291-TAGCAGCAGCAGCAGCAGCAGCAGCAGC-TAGCAGCAGCAGCAGCAGCAGCAGC
- chr1-209432291-TAGCAGCAGCAGCAGCAGCAGCAGCAGC-TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
- chr1-209432291-TAGCAGCAGCAGCAGCAGCAGCAGCAGC-TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
- chr1-209432291-TAGCAGCAGCAGCAGCAGCAGCAGCAGC-TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
- chr1-209432291-TAGCAGCAGCAGCAGCAGCAGCAGCAGC-TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
- chr1-209432291-TAGCAGCAGCAGCAGCAGCAGCAGCAGC-TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
- chr1-209432291-TAGCAGCAGCAGCAGCAGCAGCAGCAGC-TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
- chr1-209432291-TAGCAGCAGCAGCAGCAGCAGCAGCAGC-TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
- chr1-209432291-TAGCAGCAGCAGCAGCAGCAGCAGCAGC-TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
- chr1-209432291-TAGCAGCAGCAGCAGCAGCAGCAGCAGC-TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
- chr1-209432291-TAGCAGCAGCAGCAGCAGCAGCAGCAGC-TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
- chr1-209432291-TAGCAGCAGCAGCAGCAGCAGCAGCAGC-TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The ENST00000366437.8(MIR205HG):n.653_679delGCAGCAGCAGCAGCAGCAGCAGCAGCA variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000173 in 1,333,130 control chromosomes in the GnomAD database, with no homozygous occurrence. It is difficult to determine the true allele frequency of this variant because it is of type DEL_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000060 ( 0 hom., cov: 0)
Exomes 𝑓: 0.000012 ( 0 hom. )
Consequence
MIR205HG
ENST00000366437.8 non_coding_transcript_exon
ENST00000366437.8 non_coding_transcript_exon
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.825
Publications
10 publications found
Genes affected
MIR205HG (HGNC:43562): (MIR205 host gene)
MIR205 (HGNC:31583): (microRNA 205) microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| MIR205HG | NR_145433.1 | n.599_625delGCAGCAGCAGCAGCAGCAGCAGCAGCA | non_coding_transcript_exon_variant | Exon 3 of 3 | ||||
| MIR205HG | NR_145434.1 | n.734_760delGCAGCAGCAGCAGCAGCAGCAGCAGCA | non_coding_transcript_exon_variant | Exon 5 of 5 | ||||
| MIR205HG | NR_145435.1 | n.682_708delGCAGCAGCAGCAGCAGCAGCAGCAGCA | non_coding_transcript_exon_variant | Exon 4 of 4 |
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| MIR205HG | ENST00000366437.8 | n.653_679delGCAGCAGCAGCAGCAGCAGCAGCAGCA | non_coding_transcript_exon_variant | Exon 4 of 4 | 3 | |||||
| MIR205HG | ENST00000429156.7 | n.764_790delGCAGCAGCAGCAGCAGCAGCAGCAGCA | non_coding_transcript_exon_variant | Exon 5 of 5 | 3 | |||||
| MIR205HG | ENST00000431096.7 | n.685_711delGCAGCAGCAGCAGCAGCAGCAGCAGCA | non_coding_transcript_exon_variant | Exon 4 of 4 | 3 |
Frequencies
GnomAD3 genomes 0.0000535 AC: 8AN: 149472Hom.: 0 Cov.: 0 show subpopulations
GnomAD3 genomes
AF:
AC:
8
AN:
149472
Hom.:
Cov.:
0
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD4 exome AF: 0.0000118 AC: 14AN: 1183548Hom.: 0 AF XY: 0.0000171 AC XY: 10AN XY: 585122 show subpopulations
GnomAD4 exome
AF:
AC:
14
AN:
1183548
Hom.:
AF XY:
AC XY:
10
AN XY:
585122
show subpopulations
African (AFR)
AF:
AC:
7
AN:
25904
American (AMR)
AF:
AC:
0
AN:
34060
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
16278
East Asian (EAS)
AF:
AC:
0
AN:
16402
South Asian (SAS)
AF:
AC:
1
AN:
81278
European-Finnish (FIN)
AF:
AC:
1
AN:
30016
Middle Eastern (MID)
AF:
AC:
0
AN:
4160
European-Non Finnish (NFE)
AF:
AC:
2
AN:
932548
Other (OTH)
AF:
AC:
3
AN:
42902
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.521
Heterozygous variant carriers
0
1
2
2
3
4
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Exome Het
Variant carriers
0
2
4
6
8
10
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
Age
GnomAD4 genome 0.0000602 AC: 9AN: 149582Hom.: 0 Cov.: 0 AF XY: 0.0000685 AC XY: 5AN XY: 72968 show subpopulations
GnomAD4 genome
AF:
AC:
9
AN:
149582
Hom.:
Cov.:
0
AF XY:
AC XY:
5
AN XY:
72968
show subpopulations
African (AFR)
AF:
AC:
7
AN:
40278
American (AMR)
AF:
AC:
0
AN:
15046
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
3456
East Asian (EAS)
AF:
AC:
0
AN:
5034
South Asian (SAS)
AF:
AC:
0
AN:
4630
European-Finnish (FIN)
AF:
AC:
2
AN:
10334
Middle Eastern (MID)
AF:
AC:
0
AN:
292
European-Non Finnish (NFE)
AF:
AC:
0
AN:
67532
Other (OTH)
AF:
AC:
0
AN:
2080
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.419
Heterozygous variant carriers
0
1
1
2
2
3
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Variant carriers
0
2
4
6
8
10
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
Age
Alfa
AF:
Hom.:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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