rs926915

Positions:

• chr20-7215102-C-A

Variant summary

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

The NR_110609.1(LINC01428):​n.165-26535G>T 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 0.174 in 152,104 control chromosomes in the GnomAD database, including 2,932 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 0.17 (2932 hom., cov: 33)
• Consequence: LINC01428 NR_110609.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.485

Genes affected

LINC01428 (HGNC:50738): (long intergenic non-protein coding RNA 1428)

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.257 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
LINC01428	NR_110609.1	n.165-26535G>T		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
LINC01428	ENST00000449581.1	n.165-26535G>T		intron_variant, non_coding_transcript_variant		1
	ENST00000702434.1	n.176-23364G>T		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.174 AC: 26499 AN: 151986 Hom.: 2930 Cov.: 33

Gnomad AFR AF: 0.0441

Gnomad AMI AF: 0.142

Gnomad AMR AF: 0.263

Gnomad ASJ AF: 0.132

Gnomad EAS AF: 0.136

Gnomad SAS AF: 0.0773

Gnomad FIN AF: 0.232

Gnomad MID AF: 0.0918

Gnomad NFE AF: 0.238

Gnomad OTH AF: 0.175

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

GnomAD4 genome AF: 0.174 AC: 26504 AN: 152104 Hom.: 2932 Cov.: 33 AF XY: 0.173 AC XY: 12827 AN XY: 74354

Gnomad4 AFR AF: 0.0439

Gnomad4 AMR AF: 0.263

Gnomad4 ASJ AF: 0.132

Gnomad4 EAS AF: 0.136

Gnomad4 SAS AF: 0.0780

Gnomad4 FIN AF: 0.232

Gnomad4 NFE AF: 0.238

Gnomad4 OTH AF: 0.174

Alfa AF: 0.205 Hom.: 451

Bravo AF: 0.173

Asia WGS AF: 0.0960 AC: 335 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.4
DANN	Benign	0.35

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs926915; hg19: chr20-7195749;