rs1854400070

Variant names:

Your query was ambiguous. Multiple possible variants found:

Variant summary

Our verdict is Likely benign. The variant received -1 ACMG points: 0P and 1B. BP4

The NM_130439.3(MXI1):c.13G>A(p.Gly5Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000826 in 968,338 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).

Frequency

Genomes: not found (cov: 31)

Exomes 𝑓: 0.0000083 ( 0 hom. )

Consequence

MXI1
NM_130439.3 missense

Scores

Clinical Significance

Uncertain significance criteria provided, single submitter U:1

Conservation

PhyloP100: 5.13

Publications

0 publications found

Variant links:

Genes affected

MXI1 (HGNC:7534): (MAX interactor 1, dimerization protein) Expression of the c-myc gene, which produces an oncogenic transcription factor, is tightly regulated in normal cells but is frequently deregulated in human cancers. The protein encoded by this gene is a transcriptional repressor thought to negatively regulate MYC function, and is therefore a potential tumor suppressor. This protein inhibits the transcriptional activity of MYC by competing for MAX, another basic helix-loop-helix protein that binds to MYC and is required for its function. Defects in this gene are frequently found in patients with prostate tumors. Three alternatively spliced transcripts encoding different isoforms have been described. Additional alternatively spliced transcripts may exist but the products of these transcripts have not been verified experimentally. [provided by RefSeq, Jul 2008]

MXI1 links:

ENSG00000303571 (HGNC:):

ENSG00000303571 links:

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ACMG classification

Classification was made for transcript

Our verdict: Likely_benign. The variant received -1 ACMG points.

BP4

Computational evidence support a benign effect (MetaRNN=0.33064377).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
MXI1	NM_130439.3 link	c.13G>A	p.Gly5Arg	missense_variant	Exon 1 of 6	ENST00000332674.9	NP_569157.2	P50539-3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	UniProt
MXI1	ENST00000332674.9 link	c.13G>A	p.Gly5Arg	missense_variant	Exon 1 of 6	1	NM_130439.3	ENSP00000331152.5	P50539-3
MXI1	ENST00000453116.5 link	c.13G>A	p.Gly5Arg	missense_variant	Exon 1 of 4	5		ENSP00000398981.1	F6U3F6
ENSG00000303571	ENST00000795696.1 link	n.4C>T		non_coding_transcript_exon_variant	Exon 1 of 2
ENSG00000228417	ENST00000451656.1 link	n.*29C>T		downstream_gene_variant		3

Frequencies

GnomAD3 genomes

Cov.:

GnomAD4 exome

AF:

0.00000826

AC:

AN:

968338

Hom.:

Cov.:

AF XY:

0.00000217

AC XY:

AN XY:

459898

show subpopulations

African (AFR)

AF:

0.00

AC:

AN:

18598

American (AMR)

AF:

0.00

AC:

AN:

4638

Ashkenazi Jewish (ASJ)

AF:

0.00

AC:

AN:

9608

East Asian (EAS)

AF:

0.000508

AC:

AN:

13776

South Asian (SAS)

AF:

0.00

AC:

AN:

22600

European-Finnish (FIN)

AF:

0.00

AC:

AN:

13394

Middle Eastern (MID)

AF:

0.00

AC:

AN:

2288

European-Non Finnish (NFE)

AF:

0.00000118

AC:

AN:

848422

Other (OTH)

AF:

0.00

AC:

AN:

35014

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.619

Heterozygous variant carriers

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

GnomAD4 genome

Cov.:

Alfa

AF:

0.00

Hom.:

ClinVar

Significance: Uncertain significance

Submissions summary: Uncertain:1

Revision: criteria provided, single submitter

LINK: link

Submissions by phenotype

not specified

Uncertain:1

Sep 16, 2021

Ambry Genetics

Significance:Uncertain significance

Review Status:criteria provided, single submitter

Collection Method:clinical testing

The c.13G>A (p.G5R) alteration is located in exon 1 (coding exon 1) of the MXI1 gene. This alteration results from a G to A substitution at nucleotide position 13, causing the glycine (G) at amino acid position 5 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_addAF

Benign

-0.034

BayesDel_noAF

Benign

-0.29

CADD

Pathogenic

(source)

DANN

Uncertain

1.0

Eigen

Uncertain

0.50

Eigen_PC

Uncertain

0.51

FATHMM_MKL

Benign

0.75

LIST_S2

Benign

0.83

T;T

M_CAP

Pathogenic

0.66

MetaRNN

Benign

0.33

T;T

MetaSVM

Benign

-0.56

PhyloP100

5.1

PrimateAI

Pathogenic

0.95

PROVEAN

Benign

-0.40

N;N

REVEL

Benign

0.21

Sift

Pathogenic

0.0

D;D

Sift4G

Pathogenic

0.0

D;D

Polyphen

1.0

D;.

Vest4

0.41

MutPred

0.31

Gain of methylation at K3 (P = 0.0308);Gain of methylation at K3 (P = 0.0308);

MVP

0.13

MPC

1.7

ClinPred

1.0

GERP RS

4.8

PromoterAI

-0.019

Neutral

(source)

gMVP

0.29

Mutation Taster

=76/24

polymorphism

(source)

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

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rs1854400070

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

Age Distribution

ClinVar

Submissions by phenotype

Computational scores

Splicing

Publications

Other links and lift over