22-46113303-C-G
Variant names:
Variant summary
Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong
The ENST00000360737.4(MIRLET7BHG):n.3935C>G variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0 ( 0 hom., cov: 34)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
MIRLET7BHG
ENST00000360737.4 non_coding_transcript_exon
ENST00000360737.4 non_coding_transcript_exon
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0720
Publications
6 publications found
Genes affected
MIRLET7BHG (HGNC:37189): (MIRLET7B host gene)
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Likely_benign. The variant received -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.87).
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| MIRLET7BHG | NR_027033.2 | n.4092C>G | non_coding_transcript_exon_variant | Exon 6 of 6 | ||||
| MIRLET7BHG | NR_110479.1 | n.3941C>G | non_coding_transcript_exon_variant | Exon 5 of 5 | ||||
| LOC124905135 | XM_047441694.1 | c.*8714C>G | 3_prime_UTR_variant | Exon 2 of 2 | XP_047297650.1 |
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| MIRLET7BHG | ENST00000360737.4 | n.3935C>G | non_coding_transcript_exon_variant | Exon 5 of 5 | 2 | |||||
| MIRLET7BHG | ENST00000794300.1 | n.1163C>G | non_coding_transcript_exon_variant | Exon 6 of 6 | ||||||
| MIRLET7BHG | ENST00000794301.1 | n.1044C>G | non_coding_transcript_exon_variant | Exon 6 of 6 |
Frequencies
GnomAD3 genomes 0.00 AC: 0AN: 152084Hom.: 0 Cov.: 34
GnomAD3 genomes
AF:
AC:
0
AN:
152084
Hom.:
Cov.:
34
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 Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 30698Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 16386
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
AC:
0
AN:
30698
Hom.:
Cov.:
0
AF XY:
AC XY:
0
AN XY:
16386
African (AFR)
AF:
AC:
0
AN:
496
American (AMR)
AF:
AC:
0
AN:
2760
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
632
East Asian (EAS)
AF:
AC:
0
AN:
1064
South Asian (SAS)
AF:
AC:
0
AN:
4812
European-Finnish (FIN)
AF:
AC:
0
AN:
1198
Middle Eastern (MID)
AF:
AC:
0
AN:
120
European-Non Finnish (NFE)
AF:
AC:
0
AN:
18030
Other (OTH)
AF:
AC:
0
AN:
1586
GnomAD4 genome 0.00 AC: 0AN: 152084Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74272
GnomAD4 genome
Data not reliable, filtered out with message: AC0
AF:
AC:
0
AN:
152084
Hom.:
Cov.:
34
AF XY:
AC XY:
0
AN XY:
74272
African (AFR)
AF:
AC:
0
AN:
41422
American (AMR)
AF:
AC:
0
AN:
15280
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
3472
East Asian (EAS)
AF:
AC:
0
AN:
5170
South Asian (SAS)
AF:
AC:
0
AN:
4834
European-Finnish (FIN)
AF:
AC:
0
AN:
10590
Middle Eastern (MID)
AF:
AC:
0
AN:
316
European-Non Finnish (NFE)
AF:
AC:
0
AN:
67998
Other (OTH)
AF:
AC:
0
AN:
2090
Alfa
AF:
Hom.:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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