rs2286936

chr6-139457745-A-G

Variant summary

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

The ENST00000650173.1(ENSG00000226571):n.1278+6076A>G 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 0.199 in 152,150 control chromosomes in the GnomAD database, including 3,259 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 0.20 (3259 hom., cov: 32)
• Consequence: ENST00000650173.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.529

Genes affected

(HGNC:):

LINC01625 (HGNC:52052): (long intergenic non-protein coding RNA 1625)

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.36 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
LOC107986651	XR_001744382.1			downstream_gene_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
	ENST00000650173.1	n.1278+6076A>G		intron_variant, non_coding_transcript_variant
LINC01625	ENST00000666511.1	n.227+14782T>C		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.198 AC: 30169 AN: 152030 Hom.: 3245 Cov.: 32

Gnomad AFR AF: 0.240

Gnomad AMI AF: 0.114

Gnomad AMR AF: 0.221

Gnomad ASJ AF: 0.123

Gnomad EAS AF: 0.374

Gnomad SAS AF: 0.279

Gnomad FIN AF: 0.163

Gnomad MID AF: 0.153

Gnomad NFE AF: 0.159

Gnomad OTH AF: 0.201

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

GnomAD4 genome AF: 0.199 AC: 30223 AN: 152150 Hom.: 3259 Cov.: 32 AF XY: 0.202 AC XY: 15038 AN XY: 74372

Gnomad4 AFR AF: 0.241

Gnomad4 AMR AF: 0.222

Gnomad4 ASJ AF: 0.123

Gnomad4 EAS AF: 0.374

Gnomad4 SAS AF: 0.278

Gnomad4 FIN AF: 0.163

Gnomad4 NFE AF: 0.159

Gnomad4 OTH AF: 0.203

Alfa AF: 0.178 Hom.: 1222

Bravo AF: 0.204

Asia WGS AF: 0.316 AC: 1099 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
Cadd	Benign	4.2
Dann	Benign	0.36

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2286936; hg19: chr6-139778882;