rs7654425
Variant names:
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_002669.4(PLRG1):c.*1229T>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.265 in 150,792 control chromosomes in the GnomAD database, including 5,754 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 0.26 ( 5754 hom., cov: 29)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
PLRG1
NM_002669.4 3_prime_UTR
NM_002669.4 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.13
Genes affected
PLRG1 (HGNC:9089): (pleiotropic regulator 1) This gene encodes a core component of the cell division cycle 5-like (CDC5L) complex. The CDC5L complex is part of the spliceosome and is required for pre-mRNA splicing. The encoded protein plays a critical role in alternative splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
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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=-0.91).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.328 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.265 AC: 39937AN: 150674Hom.: 5756 Cov.: 29 show subpopulations
GnomAD3 genomes
AF:
AC:
39937
AN:
150674
Hom.:
Cov.:
29
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
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Gnomad NFE
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Gnomad OTH
AF:
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 2Hom.: 0 Cov.: 0AC XY: 0AN XY: 0
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
AC:
0
AN:
2
Hom.:
Cov.:
0
AC XY:
0
AN XY:
0
Gnomad4 AFR exome
AC:
0
AN:
0
Gnomad4 AMR exome
AC:
0
AN:
0
Gnomad4 ASJ exome
AC:
0
AN:
0
Gnomad4 EAS exome
AC:
0
AN:
0
Gnomad4 SAS exome
AC:
0
AN:
0
Gnomad4 FIN exome
AC:
0
AN:
0
Gnomad4 NFE exome
AF:
AC:
0
AN:
2
Gnomad4 Remaining exome
AC:
0
AN:
0
GnomAD4 genome AF: 0.265 AC: 39924AN: 150792Hom.: 5754 Cov.: 29 AF XY: 0.261 AC XY: 19171AN XY: 73564 show subpopulations
GnomAD4 genome
AF:
AC:
39924
AN:
150792
Hom.:
Cov.:
29
AF XY:
AC XY:
19171
AN XY:
73564
Gnomad4 AFR
AF:
AC:
0.177438
AN:
0.177438
Gnomad4 AMR
AF:
AC:
0.226777
AN:
0.226777
Gnomad4 ASJ
AF:
AC:
0.328787
AN:
0.328787
Gnomad4 EAS
AF:
AC:
0.139386
AN:
0.139386
Gnomad4 SAS
AF:
AC:
0.335938
AN:
0.335938
Gnomad4 FIN
AF:
AC:
0.239535
AN:
0.239535
Gnomad4 NFE
AF:
AC:
0.331491
AN:
0.331491
Gnomad4 OTH
AF:
AC:
0.293301
AN:
0.293301
Heterozygous variant carriers
0
1396
2793
4189
5586
6982
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Genome Het
Genome Hom
Variant carriers
0
418
836
1254
1672
2090
<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:
903
AN:
3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
Mutation Taster
=100/0
polymorphism (auto)
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