rs8081047

Variant names:

• chr17-34275896-T-C
• rs8081047

Your query was ambiguous. Multiple possible variants found:

• chr17-34275896-T-C
• chr17-34275896-T-G

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 0.0457 in 152,324 control chromosomes in the GnomAD database, including 286 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 0.046 (286 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.01

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.204 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: 0.0456 AC: 6941 AN: 152206 Hom.: 283 Cov.: 32

Gnomad AFR AF: 0.0189

Gnomad AMI AF: 0.0625

Gnomad AMR AF: 0.0421

Gnomad ASJ AF: 0.0487

Gnomad EAS AF: 0.0909

Gnomad SAS AF: 0.215

Gnomad FIN AF: 0.0525

Gnomad MID AF: 0.0348

Gnomad NFE AF: 0.0458

Gnomad OTH AF: 0.0454

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

GnomAD4 genome AF: 0.0457 AC: 6954 AN: 152324 Hom.: 286 Cov.: 32 AF XY: 0.0491 AC XY: 3658 AN XY: 74488

Gnomad4 AFR AF: 0.0190

Gnomad4 AMR AF: 0.0419

Gnomad4 ASJ AF: 0.0487

Gnomad4 EAS AF: 0.0911

Gnomad4 SAS AF: 0.214

Gnomad4 FIN AF: 0.0525

Gnomad4 NFE AF: 0.0458

Gnomad4 OTH AF: 0.0525

Alfa AF: 0.0234 Hom.: 10

Bravo AF: 0.0396

Asia WGS AF: 0.161 AC: 558 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.72
DANN	Benign	0.44

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8081047; hg19: chr17-32602915;