rs8065023

Variant names:

• chr17-50855467-T-C
• rs8065023
• ENST00000843821.1:n.75+14A>G

Variant summary

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

The ENST00000843821.1(ENSG00000309771):​n.75+14A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.317 in 152,098 control chromosomes in the GnomAD database, including 8,042 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 0.32 (8042 hom., cov: 32)
• Consequence: ENSG00000309771 ENST00000843821.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.528
• Publications: 5 publications found

Genes affected

ENSG00000309771 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.374 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000843821.1. 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

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000309771	ENST00000843821.1		n.75+14A>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.317 AC: 48170 AN: 151980 Hom.: 8034 Cov.: 32

Gnomad AFR AF: 0.247

Gnomad AMI AF: 0.218

Gnomad AMR AF: 0.291

Gnomad ASJ AF: 0.395

Gnomad EAS AF: 0.0982

Gnomad SAS AF: 0.251

Gnomad FIN AF: 0.350

Gnomad MID AF: 0.373

Gnomad NFE AF: 0.378

Gnomad OTH AF: 0.343

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

GnomAD4 genome AF: 0.317 AC: 48197 AN: 152098 Hom.: 8042 Cov.: 32 AF XY: 0.312 AC XY: 23193 AN XY: 74340

African (AFR) AF: 0.247 AC: 10236 AN: 41500

American (AMR) AF: 0.290 AC: 4435 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.395 AC: 1370 AN: 3468

East Asian (EAS) AF: 0.0986 AC: 511 AN: 5184

South Asian (SAS) AF: 0.251 AC: 1210 AN: 4828

European-Finnish (FIN) AF: 0.350 AC: 3699 AN: 10572

Middle Eastern (MID) AF: 0.374 AC: 110 AN: 294

European-Non Finnish (NFE) AF: 0.378 AC: 25697 AN: 67960

Other (OTH) AF: 0.347 AC: 732 AN: 2110

Alfa AF: 0.355 Hom.: 28172

Bravo AF: 0.306

Asia WGS AF: 0.214 AC: 743 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	4.7
DANN	Benign	0.31
PhyloP100		0.53

Splicing

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

Other links and lift over

dbSNP: rs8065023; hg19: chr17-48932828;