rs236572

chr17-70228951-C-T

Variant summary

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

The variant allele was found at a frequency of 0.412 in 151,984 control chromosomes in the GnomAD database, including 12,928 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 0.41 (12928 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.491

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.73).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.425 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.412 AC: 62533 AN: 151866 Hom.: 12907 Cov.: 32

Gnomad AFR AF: 0.380

Gnomad AMI AF: 0.427

Gnomad AMR AF: 0.413

Gnomad ASJ AF: 0.444

Gnomad EAS AF: 0.258

Gnomad SAS AF: 0.380

Gnomad FIN AF: 0.505

Gnomad MID AF: 0.386

Gnomad NFE AF: 0.429

Gnomad OTH AF: 0.394

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

GnomAD4 genome AF: 0.412 AC: 62597 AN: 151984 Hom.: 12928 Cov.: 32 AF XY: 0.414 AC XY: 30722 AN XY: 74270

Gnomad4 AFR AF: 0.381

Gnomad4 AMR AF: 0.413

Gnomad4 ASJ AF: 0.444

Gnomad4 EAS AF: 0.257

Gnomad4 SAS AF: 0.382

Gnomad4 FIN AF: 0.505

Gnomad4 NFE AF: 0.429

Gnomad4 OTH AF: 0.392

Alfa AF: 0.422 Hom.: 2139

Bravo AF: 0.404

Asia WGS AF: 0.333 AC: 1154 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.73
Cadd	Benign	6.5
Dann	Benign	0.63

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs236572; hg19: chr17-68225092;