rs9321314

Variant names:

• chr6-131931801-G-A
• rs9321314
• ENST00000706294.1:n.182+29650G>A

Your query was ambiguous. Multiple possible variants found:

• chr6-131931801-G-A
• chr6-131931801-G-T

Variant summary

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

The NR_187593.1(CCN2-AS1):​n.371+20846G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.191 in 152,078 control chromosomes in the GnomAD database, including 3,365 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 0.19 (3365 hom., cov: 32)
• Consequence: CCN2-AS1 NR_187593.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.23

Genes affected

LINC01013 (HGNC:48987): (long intergenic non-protein coding RNA 1013)

CCN2-AS1 (HGNC:40164): (CCN2 antisense RNA 1)

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.52).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.479 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CCN2-AS1	NR_187593.1	n.371+20846G>A		intron_variant	Intron 2 of 2
CCN2-AS1	NR_187594.1	n.488+27567G>A		intron_variant	Intron 2 of 3
CCN2-AS1	NR_187595.1	n.327+7731G>A		intron_variant	Intron 2 of 5
CCN2-AS1	NR_187596.1	n.488+27567G>A		intron_variant	Intron 2 of 2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
LINC01013	ENST00000706294.1	n.182+29650G>A		intron_variant	Intron 1 of 3
LINC01013	ENST00000706326.1	n.239+29650G>A		intron_variant	Intron 1 of 2
LINC01013	ENST00000706327.1	n.559+27567G>A		intron_variant	Intron 2 of 3

Frequencies

GnomAD3 genomes AF: 0.191 AC: 29004 AN: 151960 Hom.: 3370 Cov.: 32

Gnomad AFR AF: 0.122

Gnomad AMI AF: 0.200

Gnomad AMR AF: 0.181

Gnomad ASJ AF: 0.382

Gnomad EAS AF: 0.344

Gnomad SAS AF: 0.497

Gnomad FIN AF: 0.210

Gnomad MID AF: 0.380

Gnomad NFE AF: 0.187

Gnomad OTH AF: 0.211

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

GnomAD4 genome AF: 0.191 AC: 29004 AN: 152078 Hom.: 3365 Cov.: 32 AF XY: 0.199 AC XY: 14758 AN XY: 74318

Gnomad4 AFR AF: 0.122

Gnomad4 AMR AF: 0.181

Gnomad4 ASJ AF: 0.382

Gnomad4 EAS AF: 0.343

Gnomad4 SAS AF: 0.496

Gnomad4 FIN AF: 0.210

Gnomad4 NFE AF: 0.187

Gnomad4 OTH AF: 0.210

Alfa AF: 0.170 Hom.: 1095

Bravo AF: 0.180

Asia WGS AF: 0.361 AC: 1254 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.52
CADD	Benign	7.3
DANN	Benign	0.62

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9321314; hg19: chr6-132252941;