21-25650710-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NM_021219.4(JAM2):​c.67+10822C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.213 in 151,898 control chromosomes in the GnomAD database, including 4,056 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 0.21 ( 4056 hom., cov: 32)

Consequence

JAM2
NM_021219.4 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.630
Variant links:
Genes affected
JAM2 (HGNC:14686): (junctional adhesion molecule 2) This gene belongs to the immunoglobulin superfamily, and the junctional adhesion molecule (JAM) family. The protein encoded by this gene is a type I membrane protein that is localized at the tight junctions of both epithelial and endothelial cells. It acts as an adhesive ligand for interacting with a variety of immune cell types, and may play a role in lymphocyte homing to secondary lymphoid organs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-1.03).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.338 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
JAM2NM_021219.4 linkuse as main transcriptc.67+10822C>T intron_variant ENST00000480456.6
LOC124905001XR_007067826.1 linkuse as main transcriptn.2536+1392G>A intron_variant, non_coding_transcript_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
JAM2ENST00000480456.6 linkuse as main transcriptc.67+10822C>T intron_variant 1 NM_021219.4 P1P57087-1
JAM2ENST00000400532.5 linkuse as main transcriptc.67+10822C>T intron_variant 1 P57087-3
ENST00000659278.1 linkuse as main transcriptn.2570+1392G>A intron_variant, non_coding_transcript_variant
JAM2ENST00000312957.9 linkuse as main transcriptc.67+10822C>T intron_variant 2 P57087-2

Frequencies

GnomAD3 genomes
AF:
0.213
AC:
32340
AN:
151780
Hom.:
4036
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.342
Gnomad AMI
AF:
0.252
Gnomad AMR
AF:
0.205
Gnomad ASJ
AF:
0.0927
Gnomad EAS
AF:
0.266
Gnomad SAS
AF:
0.322
Gnomad FIN
AF:
0.173
Gnomad MID
AF:
0.199
Gnomad NFE
AF:
0.137
Gnomad OTH
AF:
0.185
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.213
AC:
32408
AN:
151898
Hom.:
4056
Cov.:
32
AF XY:
0.218
AC XY:
16202
AN XY:
74232
show subpopulations
Gnomad4 AFR
AF:
0.343
Gnomad4 AMR
AF:
0.205
Gnomad4 ASJ
AF:
0.0927
Gnomad4 EAS
AF:
0.266
Gnomad4 SAS
AF:
0.322
Gnomad4 FIN
AF:
0.173
Gnomad4 NFE
AF:
0.137
Gnomad4 OTH
AF:
0.190
Alfa
AF:
0.151
Hom.:
4090
Bravo
AF:
0.217
Asia WGS
AF:
0.284
AC:
988
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-1.0
CADD
Benign
0.13
DANN
Benign
0.42

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: rs2829841; hg19: chr21-27023022; API