chr17-34275896-T-C

Variant names:

• chr17-34275896-T-C
• rs8081047

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 7 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.0190 AC: 788 AN: 41576

American (AMR) AF: 0.0419 AC: 642 AN: 15306

Ashkenazi Jewish (ASJ) AF: 0.0487 AC: 169 AN: 3470

East Asian (EAS) AF: 0.0911 AC: 472 AN: 5182

South Asian (SAS) AF: 0.214 AC: 1034 AN: 4824

European-Finnish (FIN) AF: 0.0525 AC: 558 AN: 10624

Middle Eastern (MID) AF: 0.0340 AC: 10 AN: 294

European-Non Finnish (NFE) AF: 0.0458 AC: 3113 AN: 68020

Other (OTH) AF: 0.0525 AC: 111 AN: 2116

Alfa AF: 0.0388 Hom.: 64

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
PhyloP100		-1.0

Splicing

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

Other links and lift over

dbSNP: rs8081047; hg19: chr17-32602915;