rs8073468

Variant names:

• chr17-10203196-G-A
• rs8073468

Variant summary

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

The variant allele was found at a frequency of 0.209 in 152,064 control chromosomes in the GnomAD database, including 5,028 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 0.21 (5028 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.161
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.437 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.209 AC: 31759 AN: 151946 Hom.: 4998 Cov.: 32

Gnomad AFR AF: 0.441

Gnomad AMI AF: 0.0735

Gnomad AMR AF: 0.162

Gnomad ASJ AF: 0.116

Gnomad EAS AF: 0.144

Gnomad SAS AF: 0.168

Gnomad FIN AF: 0.0723

Gnomad MID AF: 0.123

Gnomad NFE AF: 0.115

Gnomad OTH AF: 0.192

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

GnomAD4 genome AF: 0.209 AC: 31840 AN: 152064 Hom.: 5028 Cov.: 32 AF XY: 0.205 AC XY: 15210 AN XY: 74342

African (AFR) AF: 0.442 AC: 18317 AN: 41450

American (AMR) AF: 0.162 AC: 2480 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.116 AC: 401 AN: 3464

East Asian (EAS) AF: 0.143 AC: 743 AN: 5184

South Asian (SAS) AF: 0.168 AC: 809 AN: 4822

European-Finnish (FIN) AF: 0.0723 AC: 766 AN: 10588

Middle Eastern (MID) AF: 0.133 AC: 39 AN: 294

European-Non Finnish (NFE) AF: 0.115 AC: 7813 AN: 67974

Other (OTH) AF: 0.192 AC: 405 AN: 2108

Alfa AF: 0.150 Hom.: 2149

Bravo AF: 0.225

Asia WGS AF: 0.204 AC: 709 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.77
DANN	Benign	0.35
PhyloP100		-0.16

Splicing

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

Other links and lift over

dbSNP: rs8073468; hg19: chr17-10106513;