rs8074072

chr17-13604552-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 0.396 in 151,902 control chromosomes in the GnomAD database, including 15,207 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 0.40 (15207 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0450

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.722 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: 0.396 AC: 60038 AN: 151784 Hom.: 15164 Cov.: 32

Gnomad AFR AF: 0.729

Gnomad AMI AF: 0.285

Gnomad AMR AF: 0.240

Gnomad ASJ AF: 0.270

Gnomad EAS AF: 0.213

Gnomad SAS AF: 0.323

Gnomad FIN AF: 0.236

Gnomad MID AF: 0.310

Gnomad NFE AF: 0.281

Gnomad OTH AF: 0.345

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

GnomAD4 genome AF: 0.396 AC: 60139 AN: 151902 Hom.: 15207 Cov.: 32 AF XY: 0.388 AC XY: 28770 AN XY: 74226

Gnomad4 AFR AF: 0.729

Gnomad4 AMR AF: 0.240

Gnomad4 ASJ AF: 0.270

Gnomad4 EAS AF: 0.213

Gnomad4 SAS AF: 0.323

Gnomad4 FIN AF: 0.236

Gnomad4 NFE AF: 0.281

Gnomad4 OTH AF: 0.352

Alfa AF: 0.312 Hom.: 4319

Bravo AF: 0.408

Asia WGS AF: 0.327 AC: 1136 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
Cadd	Benign	5.0
Dann	Benign	0.84

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8074072; hg19: chr17-13507869;