17-34216750-T-C

Variant names:

• chr17-34216750-T-C
• rs8075337

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 0.461 in 151,986 control chromosomes in the GnomAD database, including 16,623 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 0.46 (16623 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.147

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 (AFR) allele frequency at 95% confidence interval = 0.556 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: 0.461 AC: 69988 AN: 151868 Hom.: 16575 Cov.: 32

Gnomad AFR AF: 0.561

Gnomad AMI AF: 0.274

Gnomad AMR AF: 0.469

Gnomad ASJ AF: 0.397

Gnomad EAS AF: 0.546

Gnomad SAS AF: 0.358

Gnomad FIN AF: 0.423

Gnomad MID AF: 0.320

Gnomad NFE AF: 0.412

Gnomad OTH AF: 0.427

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

GnomAD4 genome AF: 0.461 AC: 70104 AN: 151986 Hom.: 16623 Cov.: 32 AF XY: 0.459 AC XY: 34129 AN XY: 74276

Gnomad4 AFR AF: 0.562

Gnomad4 AMR AF: 0.470

Gnomad4 ASJ AF: 0.397

Gnomad4 EAS AF: 0.546

Gnomad4 SAS AF: 0.358

Gnomad4 FIN AF: 0.423

Gnomad4 NFE AF: 0.412

Gnomad4 OTH AF: 0.427

Alfa AF: 0.411 Hom.: 18738

Bravo AF: 0.470

Asia WGS AF: 0.469 AC: 1631 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	6.2
DANN	Benign	0.65

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8075337; hg19: chr17-32543769;