rs7763881

Positions:

• chr6-8653014-A-C
• chr6-8653014-A-G
• chr6-8653014-A-T

Variant summary

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

The NR_004855.2(HULC):​n.183-531A>C 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 0.44 in 152,044 control chromosomes in the GnomAD database, including 15,029 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 0.44 (15028 hom., cov: 32)
  • Exomes 𝑓: 0.38 (1 hom.)
• Consequence: HULC NR_004855.2 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.78

Genes affected

HULC (HGNC:34232): (hepatocellular carcinoma up-regulated long non-coding RNA) This gene produces a long RNA that was discovered as upregulated in hepatocellular carcinoma and is associated with cancer progression. Expression of this transcript is regulated by microRNAs and at the transcriptional level by Sp1 family factors. The transcript may regulate gene expression by functioning as a competing RNA for microRNAs. [provided by RefSeq, Dec 2017]

LOC100506207 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.454 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
HULC	NR_004855.2	n.183-531A>C		intron_variant, non_coding_transcript_variant
LOC100506207	NR_038980.1	n.707+94371A>C		intron_variant, non_coding_transcript_variant
LOC100506207	NR_038979.1	n.685-57595A>C		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
HULC	ENST00000645747.1	n.313+105800A>C		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.440 AC: 66828 AN: 151910 Hom.: 15023 Cov.: 32

Gnomad AFR AF: 0.396

Gnomad AMI AF: 0.359

Gnomad AMR AF: 0.443

Gnomad ASJ AF: 0.409

Gnomad EAS AF: 0.430

Gnomad SAS AF: 0.350

Gnomad FIN AF: 0.549

Gnomad MID AF: 0.427

Gnomad NFE AF: 0.458

Gnomad OTH AF: 0.460

GnomAD4 exome AF: 0.375 AC: 6 AN: 16 Hom.: 1 Cov.: 0 AF XY: 0.429 AC XY: 6 AN XY: 14

Gnomad4 SAS exome AF: 0.00

Gnomad4 NFE exome AF: 0.429

GnomAD4 genome AF: 0.440 AC: 66871 AN: 152028 Hom.: 15028 Cov.: 32 AF XY: 0.444 AC XY: 32949 AN XY: 74286

Gnomad4 AFR AF: 0.396

Gnomad4 AMR AF: 0.443

Gnomad4 ASJ AF: 0.409

Gnomad4 EAS AF: 0.430

Gnomad4 SAS AF: 0.350

Gnomad4 FIN AF: 0.549

Gnomad4 NFE AF: 0.458

Gnomad4 OTH AF: 0.463

Alfa AF: 0.447 Hom.: 2580

Bravo AF: 0.432

Asia WGS AF: 0.417 AC: 1448 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	0.17
DANN	Benign	0.37

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7763881; hg19: chr6-8653247;