rs3104792

chr16-52607098-T-A

Variant summary

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

The NR_184326.1(LINC03064):n.39T>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0145 in 152,324 control chromosomes in the GnomAD database, including 64 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 0.014 (64 hom., cov: 32)
• Consequence: LINC03064 NR_184326.1 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.682

Genes affected

LINC03064 (HGNC:56372): (long intergenic non-protein coding RNA 3064)

CASC16 (HGNC:48608): (cancer susceptibility 16)

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.137 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
LINC03064	NR_184326.1	n.39T>A		non_coding_transcript_exon_variant	1/3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
LINC03064	ENST00000565153.2	n.77T>A		non_coding_transcript_exon_variant	1/3	2
CASC16	ENST00000652959.1	n.340-16031A>T		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.0144 AC: 2199 AN: 152206 Hom.: 64 Cov.: 32

Gnomad AFR AF: 0.00673

Gnomad AMI AF: 0.0175

Gnomad AMR AF: 0.0137

Gnomad ASJ AF: 0.0317

Gnomad EAS AF: 0.144

Gnomad SAS AF: 0.0485

Gnomad FIN AF: 0.0242

Gnomad MID AF: 0.0380

Gnomad NFE AF: 0.00423

Gnomad OTH AF: 0.0215

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

GnomAD4 genome AF: 0.0145 AC: 2205 AN: 152324 Hom.: 64 Cov.: 32 AF XY: 0.0166 AC XY: 1234 AN XY: 74486

Gnomad4 AFR AF: 0.00673

Gnomad4 AMR AF: 0.0137

Gnomad4 ASJ AF: 0.0317

Gnomad4 EAS AF: 0.145

Gnomad4 SAS AF: 0.0487

Gnomad4 FIN AF: 0.0242

Gnomad4 NFE AF: 0.00423

Gnomad4 OTH AF: 0.0213

Alfa AF: 0.00900 Hom.: 2

Bravo AF: 0.0143

Asia WGS AF: 0.0800 AC: 276 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
Cadd	Benign	2.3
Dann	Benign	0.51

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs3104792; hg19: chr16-52641010;