rs4679868

Positions:

• chr3-160006367-G-A

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000497452.5(IL12A-AS1):​n.822+1415C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.363 in 152,054 control chromosomes in the GnomAD database, including 10,711 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 0.36 (10711 hom., cov: 32)
• Consequence: IL12A-AS1 ENST00000497452.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.913

Genes affected

IL12A-AS1 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.464 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
IL12A-AS1	NR_108088.1	n.822+1415C>T		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
IL12A-AS1	ENST00000462431.1	n.844+2745C>T		intron_variant		5
IL12A-AS1	ENST00000497452.5	n.822+1415C>T		intron_variant		2
IL12A-AS1	ENST00000642756.1	n.512+2745C>T		intron_variant

Frequencies

GnomAD3 genomes AF: 0.363 AC: 55202 AN: 151936 Hom.: 10706 Cov.: 32

Gnomad AFR AF: 0.220

Gnomad AMI AF: 0.573

Gnomad AMR AF: 0.472

Gnomad ASJ AF: 0.514

Gnomad EAS AF: 0.480

Gnomad SAS AF: 0.412

Gnomad FIN AF: 0.437

Gnomad MID AF: 0.383

Gnomad NFE AF: 0.390

Gnomad OTH AF: 0.414

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.363 AC: 55210 AN: 152054 Hom.: 10711 Cov.: 32 AF XY: 0.372 AC XY: 27602 AN XY: 74296

Gnomad4 AFR AF: 0.220

Gnomad4 AMR AF: 0.472

Gnomad4 ASJ AF: 0.514

Gnomad4 EAS AF: 0.479

Gnomad4 SAS AF: 0.412

Gnomad4 FIN AF: 0.437

Gnomad4 NFE AF: 0.390

Gnomad4 OTH AF: 0.409

Alfa AF: 0.389 Hom.: 3715

Bravo AF: 0.360

Asia WGS AF: 0.424 AC: 1478 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	1.1
DANN	Benign	0.37

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs4679868; hg19: chr3-159724154;