rs12529636

chr6-131938581-G-A

Variant summary

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

The ENST00000706294.1(LINC01013):n.182+36430G>A 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 0.0906 in 152,294 control chromosomes in the GnomAD database, including 977 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 0.091 (977 hom., cov: 32)
• Consequence: LINC01013 ENST00000706294.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.17

Genes affected

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

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.69).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.295 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
LINC01013	ENST00000706294.1	n.182+36430G>A		intron_variant, non_coding_transcript_variant
LINC01013	ENST00000706326.1	n.239+36430G>A		intron_variant, non_coding_transcript_variant
LINC01013	ENST00000706327.1	n.559+34347G>A		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.0907 AC: 13809 AN: 152176 Hom.: 977 Cov.: 32

Gnomad AFR AF: 0.0172

Gnomad AMI AF: 0.0351

Gnomad AMR AF: 0.110

Gnomad ASJ AF: 0.247

Gnomad EAS AF: 0.244

Gnomad SAS AF: 0.309

Gnomad FIN AF: 0.103

Gnomad MID AF: 0.203

Gnomad NFE AF: 0.0939

Gnomad OTH AF: 0.111

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

GnomAD4 genome AF: 0.0906 AC: 13800 AN: 152294 Hom.: 977 Cov.: 32 AF XY: 0.0961 AC XY: 7156 AN XY: 74468

Gnomad4 AFR AF: 0.0172

Gnomad4 AMR AF: 0.110

Gnomad4 ASJ AF: 0.247

Gnomad4 EAS AF: 0.244

Gnomad4 SAS AF: 0.308

Gnomad4 FIN AF: 0.103

Gnomad4 NFE AF: 0.0940

Gnomad4 OTH AF: 0.110

Alfa AF: 0.0979 Hom.: 208

Bravo AF: 0.0859

Asia WGS AF: 0.245 AC: 851 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.69
Cadd	Benign	14
Dann	Benign	0.66

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs12529636; hg19: chr6-132259721;