rs17073641

Variant names:

• chr18-64751208-A-C
• rs17073641

Your query was ambiguous. Multiple possible variants found:

• chr18-64751208-A-C
• chr18-64751208-A-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 0.411 in 151,624 control chromosomes in the GnomAD database, including 13,084 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 (13084 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0350

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.485 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: 0.411 AC: 62300 AN: 151506 Hom.: 13084 Cov.: 32

Gnomad AFR AF: 0.326

Gnomad AMI AF: 0.482

Gnomad AMR AF: 0.386

Gnomad ASJ AF: 0.551

Gnomad EAS AF: 0.399

Gnomad SAS AF: 0.502

Gnomad FIN AF: 0.502

Gnomad MID AF: 0.440

Gnomad NFE AF: 0.440

Gnomad OTH AF: 0.421

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

GnomAD4 genome AF: 0.411 AC: 62320 AN: 151624 Hom.: 13084 Cov.: 32 AF XY: 0.418 AC XY: 30927 AN XY: 74058

Gnomad4 AFR AF: 0.326

Gnomad4 AMR AF: 0.386

Gnomad4 ASJ AF: 0.551

Gnomad4 EAS AF: 0.398

Gnomad4 SAS AF: 0.501

Gnomad4 FIN AF: 0.502

Gnomad4 NFE AF: 0.440

Gnomad4 OTH AF: 0.420

Alfa AF: 0.430 Hom.: 15699

Bravo AF: 0.394

Asia WGS AF: 0.431 AC: 1499 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	4.1
DANN	Benign	0.32

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17073641; hg19: chr18-62418444;