6-32192154-G-C

Variant summary

Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1

The NM_001276501.2(GPSM3):ā€‹c.139C>Gā€‹(p.His47Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00672 in 1,509,708 control chromosomes in the GnomAD database, including 97 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā˜…).

Frequency

Genomes: š‘“ 0.0070 ( 6 hom., cov: 31)
Exomes š‘“: 0.0067 ( 91 hom. )

Consequence

GPSM3
NM_001276501.2 missense

Scores

1
17

Clinical Significance

Benign criteria provided, single submitter B:1

Conservation

PhyloP100: 0.980
Variant links:
Genes affected
GPSM3 (HGNC:13945): (G protein signaling modulator 3) Predicted to enable GTPase regulator activity. Predicted to be involved in positive regulation of inflammatory response. Predicted to act upstream of or within positive regulation of cytokine production involved in inflammatory response and positive regulation of leukocyte chemotaxis. Predicted to be located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -14 ACMG points.

BP4
Computational evidence support a benign effect (MetaRNN=0.004505217).
BP6
Variant 6-32192154-G-C is Benign according to our data. Variant chr6-32192154-G-C is described in ClinVar as [Benign]. Clinvar id is 772877.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
GnomAdExome4 highest subpopulation (MID) allele frequency at 95% confidence interval = 0.0744 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
GPSM3NM_001276501.2 linkuse as main transcriptc.139C>G p.His47Asp missense_variant 2/4 ENST00000375040.8 NP_001263430.1
GPSM3NM_022107.3 linkuse as main transcriptc.139C>G p.His47Asp missense_variant 6/8 NP_071390.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
GPSM3ENST00000375040.8 linkuse as main transcriptc.139C>G p.His47Asp missense_variant 2/41 NM_001276501.2 ENSP00000364180 P1

Frequencies

GnomAD3 genomes
AF:
0.00706
AC:
1072
AN:
151938
Hom.:
6
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.00878
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00759
Gnomad ASJ
AF:
0.0179
Gnomad EAS
AF:
0.00174
Gnomad SAS
AF:
0.00912
Gnomad FIN
AF:
0.00113
Gnomad MID
AF:
0.0823
Gnomad NFE
AF:
0.00590
Gnomad OTH
AF:
0.0187
GnomAD3 exomes
AF:
0.00655
AC:
1139
AN:
173834
Hom.:
4
AF XY:
0.00687
AC XY:
629
AN XY:
91508
show subpopulations
Gnomad AFR exome
AF:
0.0101
Gnomad AMR exome
AF:
0.00571
Gnomad ASJ exome
AF:
0.0220
Gnomad EAS exome
AF:
0.00111
Gnomad SAS exome
AF:
0.0121
Gnomad FIN exome
AF:
0.00120
Gnomad NFE exome
AF:
0.00657
Gnomad OTH exome
AF:
0.00796
GnomAD4 exome
AF:
0.00669
AC:
9083
AN:
1357652
Hom.:
91
Cov.:
30
AF XY:
0.00695
AC XY:
4613
AN XY:
664208
show subpopulations
Gnomad4 AFR exome
AF:
0.00865
Gnomad4 AMR exome
AF:
0.00665
Gnomad4 ASJ exome
AF:
0.0203
Gnomad4 EAS exome
AF:
0.000756
Gnomad4 SAS exome
AF:
0.0117
Gnomad4 FIN exome
AF:
0.00149
Gnomad4 NFE exome
AF:
0.00604
Gnomad4 OTH exome
AF:
0.00891
GnomAD4 genome
AF:
0.00701
AC:
1066
AN:
152056
Hom.:
6
Cov.:
31
AF XY:
0.00721
AC XY:
536
AN XY:
74326
show subpopulations
Gnomad4 AFR
AF:
0.00878
Gnomad4 AMR
AF:
0.00758
Gnomad4 ASJ
AF:
0.0179
Gnomad4 EAS
AF:
0.00175
Gnomad4 SAS
AF:
0.00912
Gnomad4 FIN
AF:
0.00113
Gnomad4 NFE
AF:
0.00590
Gnomad4 OTH
AF:
0.0180
Alfa
AF:
0.00619
Hom.:
1
Bravo
AF:
0.00725
ESP6500AA
AF:
0.00817
AC:
36
ESP6500EA
AF:
0.00686
AC:
59
ExAC
AF:
0.00651
AC:
748
Asia WGS
AF:
0.00751
AC:
26
AN:
3478

ClinVar

Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link

Submissions by phenotype

not provided Benign:1
Benign, criteria provided, single submitterclinical testingLabcorp Genetics (formerly Invitae), LabcorpMay 25, 2018- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
0.089
BayesDel_addAF
Benign
-0.49
T
BayesDel_noAF
Benign
-0.46
CADD
Benign
14
DANN
Benign
0.55
DEOGEN2
Benign
0.014
T;T;T
Eigen
Benign
-0.98
Eigen_PC
Benign
-0.95
FATHMM_MKL
Benign
0.29
N
LIST_S2
Benign
0.60
T;.;.
MetaRNN
Benign
0.0045
T;T;T
MetaSVM
Benign
-1.0
T
MutationAssessor
Benign
0.81
.;L;L
MutationTaster
Benign
0.79
N;N;N
PrimateAI
Uncertain
0.69
T
PROVEAN
Benign
0.090
N;N;N
REVEL
Benign
0.023
Sift
Benign
0.084
T;T;T
Sift4G
Benign
0.83
T;T;T
Polyphen
0.0010
.;B;B
Vest4
0.30
MVP
0.043
MPC
0.62
ClinPred
0.0016
T
GERP RS
1.8
RBP_binding_hub_radar
0.0
RBP_regulation_power_radar
1.0
Varity_R
0.072
gMVP
0.20

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.020
Details are displayed if max score is > 0.2

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs148125791; hg19: chr6-32159931; API