NM_001102450.3:c.194-6419G>T
Variant names:
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001102450.3(RGS8):c.194-6419G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.778 in 152,092 control chromosomes in the GnomAD database, including 46,096 homozygotes. 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 0.78 ( 46096 hom., cov: 32)
Consequence
RGS8
NM_001102450.3 intron
NM_001102450.3 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.257
Publications
0 publications found
Genes affected
RGS8 (HGNC:16810): (regulator of G protein signaling 8) This gene is a member of the regulator of G protein signaling (RGS) family and encodes a protein with a single RGS domain. Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. They accelerate transit through the cycle of GTP binding and hydrolysis to GDP, thereby terminating signal transduction, but paradoxically, also accelerate receptor-stimulated activation. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification was made for transcript
Our verdict: Benign. The variant received -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.99).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.8 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.778 AC: 118202AN: 151974Hom.: 46058 Cov.: 32 show subpopulations
GnomAD3 genomes
AF:
AC:
118202
AN:
151974
Hom.:
Cov.:
32
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:
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.778 AC: 118297AN: 152092Hom.: 46096 Cov.: 32 AF XY: 0.776 AC XY: 57722AN XY: 74346 show subpopulations
GnomAD4 genome
AF:
AC:
118297
AN:
152092
Hom.:
Cov.:
32
AF XY:
AC XY:
57722
AN XY:
74346
show subpopulations
African (AFR)
AF:
AC:
33482
AN:
41492
American (AMR)
AF:
AC:
11340
AN:
15262
Ashkenazi Jewish (ASJ)
AF:
AC:
2265
AN:
3470
East Asian (EAS)
AF:
AC:
3820
AN:
5180
South Asian (SAS)
AF:
AC:
3707
AN:
4820
European-Finnish (FIN)
AF:
AC:
8362
AN:
10562
Middle Eastern (MID)
AF:
AC:
190
AN:
294
European-Non Finnish (NFE)
AF:
AC:
52854
AN:
67984
Other (OTH)
AF:
AC:
1573
AN:
2116
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.505
Heterozygous variant carriers
0
1367
2733
4100
5466
6833
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
864
1728
2592
3456
4320
<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.:
Bravo
AF:
Asia WGS
AF:
AC:
2732
AN:
3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
PhyloP100
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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