GeneBe

22-50090067-C-CGGCG

Variant names:

Variant summary

Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2

The NM_018995.3(MOV10L1):​c.-22_-21insGGCG variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000161 in 1,241,990 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.0000066 ( 0 hom., cov: 33)
Exomes 𝑓: 9.2e-7 ( 0 hom. )

Consequence

MOV10L1
NM_018995.3 5_prime_UTR

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.91

Publications

0 publications found
Variant links:
Genes affected
MOV10L1 (HGNC:7201): (Mov10 like RNA helicase 1) This gene is similar to a mouse gene that encodes a putative RNA helicase and shows testis-specific expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]

Genome browser will be placed here

ACMG classification

Classification was made for transcript

Our verdict: Uncertain_significance. The variant received 2 ACMG points.

PM2
Very rare variant in population databases, with high coverage;

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
MOV10L1NM_018995.3 linkc.-22_-21insGGCG 5_prime_UTR_variant Exon 1 of 27 ENST00000262794.10 NP_061868.1 Q9BXT6-1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
MOV10L1ENST00000262794.10 linkc.-22_-21insGGCG 5_prime_UTR_variant Exon 1 of 27 1 NM_018995.3 ENSP00000262794.5 Q9BXT6-1

Frequencies

GnomAD3 genomes
AF:
0.00000661
AC:
1
AN:
151226
Hom.:
0
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.00
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.0000148
Gnomad OTH
AF:
0.00
GnomAD4 exome
AF:
9.17e-7
AC:
1
AN:
1090764
Hom.:
0
Cov.:
31
AF XY:
0.00000193
AC XY:
1
AN XY:
517826
show subpopulations
African (AFR)
AF:
0.00
AC:
0
AN:
22348
American (AMR)
AF:
0.00
AC:
0
AN:
7796
Ashkenazi Jewish (ASJ)
AF:
0.00
AC:
0
AN:
13676
East Asian (EAS)
AF:
0.00
AC:
0
AN:
25256
South Asian (SAS)
AF:
0.00
AC:
0
AN:
23020
European-Finnish (FIN)
AF:
0.00
AC:
0
AN:
30332
Middle Eastern (MID)
AF:
0.000317
AC:
1
AN:
3154
European-Non Finnish (NFE)
AF:
0.00
AC:
0
AN:
921962
Other (OTH)
AF:
0.00
AC:
0
AN:
43220
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.425
Heterozygous variant carriers
0
0
1
1
2
2
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
AF:
0.00000661
AC:
1
AN:
151226
Hom.:
0
Cov.:
33
AF XY:
0.00
AC XY:
0
AN XY:
73810
show subpopulations
African (AFR)
AF:
0.00
AC:
0
AN:
41378
American (AMR)
AF:
0.00
AC:
0
AN:
15120
Ashkenazi Jewish (ASJ)
AF:
0.00
AC:
0
AN:
3454
East Asian (EAS)
AF:
0.00
AC:
0
AN:
5174
South Asian (SAS)
AF:
0.00
AC:
0
AN:
4838
European-Finnish (FIN)
AF:
0.00
AC:
0
AN:
10314
Middle Eastern (MID)
AF:
0.00
AC:
0
AN:
314
European-Non Finnish (NFE)
AF:
0.0000148
AC:
1
AN:
67646
Other (OTH)
AF:
0.00
AC:
0
AN:
2076
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.625
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
-1.9

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

Other links and lift over

dbSNP: rs755579930; hg19: chr22-50528496; API