rs755004

Variant summary

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

The NR_108088.1(IL12A-AS1):​n.1350+6560C>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 0.106 in 152,234 control chromosomes in the GnomAD database, including 1,025 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 0.11 ( 1025 hom., cov: 33)

Consequence

IL12A-AS1
NR_108088.1 intron, non_coding_transcript

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.205
Variant links:
Genes affected
IL12A-AS1 (HGNC:49094): (IL12A 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=-0.91).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.143 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
IL12A-AS1NR_108088.1 linkuse as main transcriptn.1350+6560C>T intron_variant, non_coding_transcript_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
IL12A-AS1ENST00000497452.5 linkuse as main transcriptn.1350+6560C>T intron_variant, non_coding_transcript_variant 2

Frequencies

GnomAD3 genomes
AF:
0.106
AC:
16080
AN:
152116
Hom.:
1021
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.0359
Gnomad AMI
AF:
0.167
Gnomad AMR
AF:
0.139
Gnomad ASJ
AF:
0.0790
Gnomad EAS
AF:
0.0811
Gnomad SAS
AF:
0.0987
Gnomad FIN
AF:
0.0955
Gnomad MID
AF:
0.0791
Gnomad NFE
AF:
0.145
Gnomad OTH
AF:
0.107
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.106
AC:
16090
AN:
152234
Hom.:
1025
Cov.:
33
AF XY:
0.104
AC XY:
7748
AN XY:
74420
show subpopulations
Gnomad4 AFR
AF:
0.0358
Gnomad4 AMR
AF:
0.139
Gnomad4 ASJ
AF:
0.0790
Gnomad4 EAS
AF:
0.0810
Gnomad4 SAS
AF:
0.0990
Gnomad4 FIN
AF:
0.0955
Gnomad4 NFE
AF:
0.145
Gnomad4 OTH
AF:
0.110
Alfa
AF:
0.131
Hom.:
1928
Bravo
AF:
0.108
Asia WGS
AF:
0.0720
AC:
252
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.91
CADD
Benign
3.4
DANN
Benign
0.74

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: rs755004; hg19: chr3-159700325; API