chr1-92624266-T-G

Variant summary

Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3

The NM_001350197.2(EVI5):ā€‹c.1737A>Cā€‹(p.Gln579His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,812 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 30)
Exomes š‘“: 6.8e-7 ( 0 hom. )

Consequence

EVI5
NM_001350197.2 missense

Scores

2
12
5

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.851
Variant links:
Genes affected
EVI5 (HGNC:3501): (ecotropic viral integration site 5) Enables GTPase activator activity and small GTPase binding activity. Involved in positive regulation of GTPase activity and retrograde transport, endosome to Golgi. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 3 ACMG points.

PM2
Very rare variant in population databases, with high coverage;
PP3
MetaRNN computational evidence supports a deleterious effect, 0.819

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
EVI5NM_001350197.2 linkuse as main transcriptc.1737A>C p.Gln579His missense_variant 16/20 ENST00000684568.2 NP_001337126.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
EVI5ENST00000684568.2 linkuse as main transcriptc.1737A>C p.Gln579His missense_variant 16/20 NM_001350197.2 ENSP00000506999 P1

Frequencies

GnomAD3 genomes
Cov.:
30
GnomAD4 exome
AF:
6.85e-7
AC:
1
AN:
1460812
Hom.:
0
Cov.:
35
AF XY:
0.00000138
AC XY:
1
AN XY:
726814
show subpopulations
Gnomad4 AFR exome
AF:
0.0000299
Gnomad4 AMR exome
AF:
0.00
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.00
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.00
Gnomad4 OTH exome
AF:
0.00
GnomAD4 genome
Cov.:
30

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Uncertain
0.48
BayesDel_addAF
Uncertain
0.13
D
BayesDel_noAF
Uncertain
-0.050
CADD
Benign
22
DANN
Uncertain
1.0
DEOGEN2
Benign
0.11
T;.
Eigen
Uncertain
0.33
Eigen_PC
Uncertain
0.26
FATHMM_MKL
Uncertain
0.88
D
LIST_S2
Uncertain
0.89
D;D
M_CAP
Benign
0.027
D
MetaRNN
Pathogenic
0.82
D;D
MetaSVM
Benign
-0.90
T
MutationAssessor
Pathogenic
3.2
M;.
MutationTaster
Benign
0.00077
P;P;P
PrimateAI
Uncertain
0.68
T
PROVEAN
Uncertain
-3.3
D;.
REVEL
Benign
0.24
Sift
Uncertain
0.0020
D;.
Sift4G
Uncertain
0.0040
D;D
Polyphen
0.98
D;.
Vest4
0.76
MutPred
0.11
.;Loss of MoRF binding (P = 0.0998);
MVP
0.56
MPC
0.39
ClinPred
0.97
D
GERP RS
2.0
RBP_binding_hub_radar
0.0
RBP_regulation_power_radar
1.7
Varity_R
0.55
gMVP
0.51

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
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: rs7514716; hg19: chr1-93089823; API