17-70263305-A-G

Variant names:

• chr17-70263305-A-G
• rs623011

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 0.737 in 152,118 control chromosomes in the GnomAD database, including 41,624 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 0.74 (41624 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.67
• Publications: 19 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.804 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: 0.738 AC: 112102 AN: 152000 Hom.: 41588 Cov.: 32

Gnomad AFR AF: 0.727

Gnomad AMI AF: 0.712

Gnomad AMR AF: 0.686

Gnomad ASJ AF: 0.692

Gnomad EAS AF: 0.532

Gnomad SAS AF: 0.825

Gnomad FIN AF: 0.819

Gnomad MID AF: 0.699

Gnomad NFE AF: 0.755

Gnomad OTH AF: 0.746

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

GnomAD4 genome AF: 0.737 AC: 112186 AN: 152118 Hom.: 41624 Cov.: 32 AF XY: 0.741 AC XY: 55108 AN XY: 74360

African (AFR) AF: 0.727 AC: 30158 AN: 41486

American (AMR) AF: 0.686 AC: 10477 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.692 AC: 2400 AN: 3470

East Asian (EAS) AF: 0.531 AC: 2744 AN: 5170

South Asian (SAS) AF: 0.826 AC: 3982 AN: 4822

European-Finnish (FIN) AF: 0.819 AC: 8668 AN: 10580

Middle Eastern (MID) AF: 0.704 AC: 207 AN: 294

European-Non Finnish (NFE) AF: 0.755 AC: 51327 AN: 67994

Other (OTH) AF: 0.747 AC: 1574 AN: 2108

Alfa AF: 0.736 Hom.: 81587

Bravo AF: 0.720

Asia WGS AF: 0.690 AC: 2400 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.38
DANN	Benign	0.44
PhyloP100		-2.7

Splicing

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

Other links and lift over

dbSNP: rs623011; hg19: chr17-68259446;