rs12912251

Positions:

• chr15-38694167-G-T

Variant summary

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

The ENST00000644461.1(LINC02694):​n.96+66012G>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 0.249 in 152,150 control chromosomes in the GnomAD database, including 5,079 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 0.25 (5079 hom., cov: 32)
• Consequence: LINC02694 ENST00000644461.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0860

Genes affected

LINC02694 (HGNC:33796): (long intergenic non-protein coding RNA 2694)

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.298 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
LINC02694	ENST00000644461.1	n.96+66012G>T		intron_variant, non_coding_transcript_variant
LINC02694	ENST00000646232.1	n.163+4853G>T		intron_variant, non_coding_transcript_variant
LINC02694	ENST00000647456.1	n.572+4853G>T		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.249 AC: 37864 AN: 152032 Hom.: 5078 Cov.: 32

Gnomad AFR AF: 0.172

Gnomad AMI AF: 0.268

Gnomad AMR AF: 0.265

Gnomad ASJ AF: 0.313

Gnomad EAS AF: 0.0946

Gnomad SAS AF: 0.203

Gnomad FIN AF: 0.256

Gnomad MID AF: 0.313

Gnomad NFE AF: 0.302

Gnomad OTH AF: 0.273

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

GnomAD4 genome AF: 0.249 AC: 37885 AN: 152150 Hom.: 5079 Cov.: 32 AF XY: 0.247 AC XY: 18369 AN XY: 74370

Gnomad4 AFR AF: 0.172

Gnomad4 AMR AF: 0.265

Gnomad4 ASJ AF: 0.313

Gnomad4 EAS AF: 0.0948

Gnomad4 SAS AF: 0.203

Gnomad4 FIN AF: 0.256

Gnomad4 NFE AF: 0.302

Gnomad4 OTH AF: 0.270

Alfa AF: 0.291 Hom.: 8037

Bravo AF: 0.252

Asia WGS AF: 0.148 AC: 512 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.7
DANN	Benign	0.75

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs12912251; hg19: chr15-38986368;