rs2245210

Variant summary

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

The NR_120431.1(MSRB3-AS1):​n.392+32877C>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.173 in 152,140 control chromosomes in the GnomAD database, including 2,706 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 0.17 ( 2706 hom., cov: 33)

Consequence

MSRB3-AS1
NR_120431.1 intron, non_coding_transcript

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.0330
Variant links:
Genes affected
MSRB3-AS1 (HGNC:53386): (MSRB3 antisense RNA 1)

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.79).
BA1
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.267 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
MSRB3-AS1NR_120431.1 linkuse as main transcriptn.392+32877C>T intron_variant, non_coding_transcript_variant
MSRB3-AS1NR_120432.1 linkuse as main transcriptn.565+32877C>T intron_variant, non_coding_transcript_variant
MSRB3-AS1NR_120433.1 linkuse as main transcriptn.569+1570C>T intron_variant, non_coding_transcript_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
MSRB3-AS1ENST00000537250.5 linkuse as main transcriptn.218+32877C>T intron_variant, non_coding_transcript_variant 3

Frequencies

GnomAD3 genomes
AF:
0.173
AC:
26246
AN:
152022
Hom.:
2701
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.0750
Gnomad AMI
AF:
0.191
Gnomad AMR
AF:
0.274
Gnomad ASJ
AF:
0.203
Gnomad EAS
AF:
0.266
Gnomad SAS
AF:
0.0962
Gnomad FIN
AF:
0.137
Gnomad MID
AF:
0.171
Gnomad NFE
AF:
0.212
Gnomad OTH
AF:
0.169
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.173
AC:
26258
AN:
152140
Hom.:
2706
Cov.:
33
AF XY:
0.171
AC XY:
12734
AN XY:
74376
show subpopulations
Gnomad4 AFR
AF:
0.0749
Gnomad4 AMR
AF:
0.274
Gnomad4 ASJ
AF:
0.203
Gnomad4 EAS
AF:
0.266
Gnomad4 SAS
AF:
0.0963
Gnomad4 FIN
AF:
0.137
Gnomad4 NFE
AF:
0.212
Gnomad4 OTH
AF:
0.171
Alfa
AF:
0.207
Hom.:
3677
Bravo
AF:
0.181
Asia WGS
AF:
0.173
AC:
603
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.79
CADD
Benign
13
DANN
Benign
0.67

Splicing

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: rs2245210; hg19: chr12-65930894; API