17-73734312-A-G

Variant names:

• chr17-73734312-A-G
• rs323413

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 0.531 in 151,346 control chromosomes in the GnomAD database, including 23,666 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 0.53 (23666 hom., cov: 28)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.96

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.05).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.801 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: 0.531 AC: 80321 AN: 151226 Hom.: 23618 Cov.: 28

Gnomad AFR AF: 0.808

Gnomad AMI AF: 0.411

Gnomad AMR AF: 0.488

Gnomad ASJ AF: 0.458

Gnomad EAS AF: 0.443

Gnomad SAS AF: 0.497

Gnomad FIN AF: 0.371

Gnomad MID AF: 0.411

Gnomad NFE AF: 0.414

Gnomad OTH AF: 0.501

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

GnomAD4 genome AF: 0.531 AC: 80430 AN: 151346 Hom.: 23666 Cov.: 28 AF XY: 0.528 AC XY: 39061 AN XY: 73950

Gnomad4 AFR AF: 0.808

Gnomad4 AMR AF: 0.489

Gnomad4 ASJ AF: 0.458

Gnomad4 EAS AF: 0.444

Gnomad4 SAS AF: 0.495

Gnomad4 FIN AF: 0.371

Gnomad4 NFE AF: 0.414

Gnomad4 OTH AF: 0.506

Alfa AF: 0.420 Hom.: 16554

Bravo AF: 0.549

Asia WGS AF: 0.499 AC: 1734 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	0.28
DANN	Benign	0.25

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs323413; hg19: chr17-71730451;