rs2699089

Variant names:

• chr12-127919658-T-C
• rs2699089
• ENST00000542089.2:n.383+3976T>C

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000542089.2(LINC00507):​n.383+3976T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.132 in 151,530 control chromosomes in the GnomAD database, including 1,925 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 0.13 (1925 hom., cov: 32)
• Consequence: LINC00507 ENST00000542089.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.446
• Publications: 1 publications found

Genes affected

LINC00507 (HGNC:43558): (long intergenic non-protein coding RNA 507)

LINC00508 (HGNC:43559): (long intergenic non-protein coding RNA 508)

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.265 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000542089.2. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	LINC00507	NR_046392.1		n.273+3976T>C		intron	N/A
	LINC00508	NR_126452.2		n.311+20916A>G		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	LINC00507	ENST00000542089.2	TSL:1	n.383+3976T>C		intron	N/A
	LINC00507	ENST00000540882.6	TSL:5	n.251+3976T>C		intron	N/A
	LINC00507	ENST00000544645.6	TSL:2	n.276+3976T>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.132 AC: 20039 AN: 151412 Hom.: 1916 Cov.: 32

Gnomad AFR AF: 0.270

Gnomad AMI AF: 0.0232

Gnomad AMR AF: 0.0944

Gnomad ASJ AF: 0.107

Gnomad EAS AF: 0.00711

Gnomad SAS AF: 0.0407

Gnomad FIN AF: 0.102

Gnomad MID AF: 0.0924

Gnomad NFE AF: 0.0816

Gnomad OTH AF: 0.134

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

GnomAD4 genome AF: 0.132 AC: 20069 AN: 151530 Hom.: 1925 Cov.: 32 AF XY: 0.129 AC XY: 9584 AN XY: 74086

African (AFR) AF: 0.270 AC: 11082 AN: 41096

American (AMR) AF: 0.0943 AC: 1440 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.107 AC: 370 AN: 3470

East Asian (EAS) AF: 0.00713 AC: 36 AN: 5048

South Asian (SAS) AF: 0.0410 AC: 197 AN: 4808

European-Finnish (FIN) AF: 0.102 AC: 1076 AN: 10570

Middle Eastern (MID) AF: 0.0884 AC: 26 AN: 294

European-Non Finnish (NFE) AF: 0.0816 AC: 5543 AN: 67958

Other (OTH) AF: 0.132 AC: 278 AN: 2106

Alfa AF: 0.0995 Hom.: 3025

Bravo AF: 0.138

Asia WGS AF: 0.0420 AC: 147 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	4.9
DANN	Benign	0.71
PhyloP100		0.45

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs2699089;

hg19: chr12-128404203;