rs593418

Variant names:

• chr18-68261994-T-C
• rs593418
• ENST00000581844.1:n.130-324A>G

Variant summary

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

The ENST00000581844.1(LINC01912):​n.130-324A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.614 in 151,758 control chromosomes in the GnomAD database, including 28,837 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 0.61 (28837 hom., cov: 31)
• Consequence: LINC01912 ENST00000581844.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.63
• Publications: 3 publications found

Genes affected

LINC01912 (HGNC:52731): (long intergenic non-protein coding RNA 1912)

ENSG00000287907 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.731 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000581844.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	LINC01912	NR_183524.1		n.1306-324A>G		intron	N/A

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	LINC01912	ENST00000581844.1	TSL:5	n.130-324A>G		intron	N/A
	LINC01912	ENST00000657287.1		n.738-324A>G		intron	N/A
	ENSG00000287907	ENST00000661028.2		n.645-21852A>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.614 AC: 93080 AN: 151640 Hom.: 28808 Cov.: 31

Gnomad AFR AF: 0.550

Gnomad AMI AF: 0.616

Gnomad AMR AF: 0.669

Gnomad ASJ AF: 0.569

Gnomad EAS AF: 0.517

Gnomad SAS AF: 0.752

Gnomad FIN AF: 0.629

Gnomad MID AF: 0.639

Gnomad NFE AF: 0.637

Gnomad OTH AF: 0.623

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

GnomAD4 genome AF: 0.614 AC: 93156 AN: 151758 Hom.: 28837 Cov.: 31 AF XY: 0.616 AC XY: 45636 AN XY: 74120

African (AFR) AF: 0.550 AC: 22767 AN: 41378

American (AMR) AF: 0.670 AC: 10182 AN: 15202

Ashkenazi Jewish (ASJ) AF: 0.569 AC: 1974 AN: 3468

East Asian (EAS) AF: 0.518 AC: 2660 AN: 5134

South Asian (SAS) AF: 0.752 AC: 3615 AN: 4810

European-Finnish (FIN) AF: 0.629 AC: 6628 AN: 10534

Middle Eastern (MID) AF: 0.633 AC: 186 AN: 294

European-Non Finnish (NFE) AF: 0.637 AC: 43272 AN: 67922

Other (OTH) AF: 0.623 AC: 1313 AN: 2108

Alfa AF: 0.634 Hom.: 127844

Bravo AF: 0.610

Asia WGS AF: 0.657 AC: 2286 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.16
DANN	Benign	0.41
PhyloP100		-1.6

Splicing

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

Other links and lift over

dbSNP: rs593418; hg19: chr18-65929231;