rs1514551

Variant names:

• chr13-61135585-G-A
• rs1514551
• ENST00000658247.1:n.461-40944G>A

Your query was ambiguous. Multiple possible variants found:

• chr13-61135585-G-A
• chr13-61135585-G-T

Variant summary

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

The ENST00000658247.1(LINC00378):​n.461-40944G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0321 in 152,122 control chromosomes in the GnomAD database, including 220 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 0.032 (220 hom., cov: 32)
• Consequence: LINC00378 ENST00000658247.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.470
• Publications: 3 publications found

Genes affected

LINC00378 (HGNC:42704): (long intergenic non-protein coding RNA 378)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.192 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000658247.1. 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
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	LINC00378	ENST00000658247.1		n.461-40944G>A		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.0320 AC: 4867 AN: 152004 Hom.: 217 Cov.: 32

Gnomad AFR AF: 0.00918

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0786

Gnomad ASJ AF: 0.0170

Gnomad EAS AF: 0.202

Gnomad SAS AF: 0.0193

Gnomad FIN AF: 0.0519

Gnomad MID AF: 0.00316

Gnomad NFE AF: 0.0218

Gnomad OTH AF: 0.0316

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

GnomAD4 genome AF: 0.0321 AC: 4882 AN: 152122 Hom.: 220 Cov.: 32 AF XY: 0.0349 AC XY: 2599 AN XY: 74380

African (AFR) AF: 0.00925 AC: 384 AN: 41534

American (AMR) AF: 0.0794 AC: 1210 AN: 15244

Ashkenazi Jewish (ASJ) AF: 0.0170 AC: 59 AN: 3470

East Asian (EAS) AF: 0.202 AC: 1038 AN: 5144

South Asian (SAS) AF: 0.0189 AC: 91 AN: 4816

European-Finnish (FIN) AF: 0.0519 AC: 550 AN: 10604

Middle Eastern (MID) AF: 0.00340 AC: 1 AN: 294

European-Non Finnish (NFE) AF: 0.0218 AC: 1480 AN: 67992

Other (OTH) AF: 0.0327 AC: 69 AN: 2112

Alfa AF: 0.0253 Hom.: 429

Bravo AF: 0.0366

Asia WGS AF: 0.0980 AC: 341 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.47
DANN	Benign	0.29
PhyloP100		-0.47

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: rs1514551;

hg19: chr13-61709719;