rs10484189

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NM_001113498.3(MDGA2):​c.420+41487C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0312 in 152,072 control chromosomes in the GnomAD database, including 171 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 0.031 ( 171 hom., cov: 32)

Consequence

MDGA2
NM_001113498.3 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.729

Publications

4 publications found
Variant links:
Genes affected
MDGA2 (HGNC:19835): (MAM domain containing glycosylphosphatidylinositol anchor 2) Predicted to be involved in regulation of presynapse assembly; regulation of synaptic membrane adhesion; and spinal cord motor neuron differentiation. Predicted to act upstream of or within neuron migration and pattern specification process. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in GABA-ergic synapse and glutamatergic synapse. [provided by Alliance of Genome Resources, Apr 2022]

Genome browser will be placed here

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=-0.53).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.168 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
MDGA2NM_001113498.3 linkc.420+41487C>T intron_variant Intron 2 of 16 ENST00000399232.8 NP_001106970.4 Q7Z553-3

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
MDGA2ENST00000399232.8 linkc.420+41487C>T intron_variant Intron 2 of 16 1 NM_001113498.3 ENSP00000382178.4 Q7Z553-3

Frequencies

GnomAD3 genomes
AF:
0.0312
AC:
4737
AN:
151952
Hom.:
171
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.0505
Gnomad AMI
AF:
0.00110
Gnomad AMR
AF:
0.0182
Gnomad ASJ
AF:
0.0271
Gnomad EAS
AF:
0.177
Gnomad SAS
AF:
0.0712
Gnomad FIN
AF:
0.0422
Gnomad MID
AF:
0.0127
Gnomad NFE
AF:
0.00762
Gnomad OTH
AF:
0.0235
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.0312
AC:
4742
AN:
152072
Hom.:
171
Cov.:
32
AF XY:
0.0340
AC XY:
2530
AN XY:
74350
show subpopulations
African (AFR)
AF:
0.0504
AC:
2092
AN:
41496
American (AMR)
AF:
0.0182
AC:
277
AN:
15244
Ashkenazi Jewish (ASJ)
AF:
0.0271
AC:
94
AN:
3468
East Asian (EAS)
AF:
0.178
AC:
916
AN:
5154
South Asian (SAS)
AF:
0.0709
AC:
342
AN:
4826
European-Finnish (FIN)
AF:
0.0422
AC:
447
AN:
10596
Middle Eastern (MID)
AF:
0.0136
AC:
4
AN:
294
European-Non Finnish (NFE)
AF:
0.00762
AC:
518
AN:
67972
Other (OTH)
AF:
0.0242
AC:
51
AN:
2110
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.503
Heterozygous variant carriers
0
219
439
658
878
1097
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
64
128
192
256
320
<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:
0.0149
Hom.:
243
Bravo
AF:
0.0308
Asia WGS
AF:
0.110
AC:
381
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.53
CADD
Benign
16
DANN
Benign
0.80
PhyloP100
0.73
Mutation Taster
=100/0
polymorphism (auto)

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

Other links and lift over

dbSNP: rs10484189; hg19: chr14-47729127; API