4-131490215-T-G

Variant names:

• chr4-131490215-T-G
• rs171251
• ENST00000500169.7:n.592-37015T>G

Variant summary

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

The ENST00000500169.7(LINC02377):​n.592-37015T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.303 in 152,012 control chromosomes in the GnomAD database, including 7,656 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 0.30 (7656 hom., cov: 32)
• Consequence: LINC02377 ENST00000500169.7 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.323
• Publications: 2 publications found

Genes affected

LINC02377 (HGNC:53300): (long intergenic non-protein coding RNA 2377)

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 = 0.429 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000500169.7. 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
	LINC02377	NR_183917.1		n.586-37015T>G		intron	N/A
	LINC02377	NR_183918.1		n.704-32705T>G		intron	N/A
	LINC02377	NR_183919.1		n.704-37015T>G		intron	N/A

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	LINC02377	ENST00000500169.7	TSL:3	n.592-37015T>G		intron	N/A
	LINC02377	ENST00000505436.1	TSL:5	n.118+4141T>G		intron	N/A
	LINC02377	ENST00000652848.1		n.706+20592T>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.303 AC: 46024 AN: 151894 Hom.: 7645 Cov.: 32

Gnomad AFR AF: 0.434

Gnomad AMI AF: 0.318

Gnomad AMR AF: 0.256

Gnomad ASJ AF: 0.270

Gnomad EAS AF: 0.0466

Gnomad SAS AF: 0.294

Gnomad FIN AF: 0.194

Gnomad MID AF: 0.364

Gnomad NFE AF: 0.272

Gnomad OTH AF: 0.305

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

GnomAD4 genome AF: 0.303 AC: 46067 AN: 152012 Hom.: 7656 Cov.: 32 AF XY: 0.296 AC XY: 22014 AN XY: 74304

African (AFR) AF: 0.434 AC: 17972 AN: 41426

American (AMR) AF: 0.256 AC: 3899 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.270 AC: 937 AN: 3472

East Asian (EAS) AF: 0.0469 AC: 243 AN: 5176

South Asian (SAS) AF: 0.296 AC: 1424 AN: 4818

European-Finnish (FIN) AF: 0.194 AC: 2050 AN: 10580

Middle Eastern (MID) AF: 0.357 AC: 105 AN: 294

European-Non Finnish (NFE) AF: 0.272 AC: 18509 AN: 67976

Other (OTH) AF: 0.304 AC: 639 AN: 2102

Alfa AF: 0.287 Hom.: 1361

Bravo AF: 0.313

Asia WGS AF: 0.202 AC: 704 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	1.3
DANN	Benign	0.73
PhyloP100		-0.32

Splicing

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

Other links and lift over

dbSNP: rs171251; hg19: chr4-132411370;