chr17-34216750-T-C

Variant names:

• chr17-34216750-T-C
• rs8075337

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 0.461 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
• Publications: 4 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.562 AC: 23264 AN: 41422

American (AMR) AF: 0.470 AC: 7175 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.397 AC: 1378 AN: 3468

East Asian (EAS) AF: 0.546 AC: 2825 AN: 5172

South Asian (SAS) AF: 0.358 AC: 1726 AN: 4820

European-Finnish (FIN) AF: 0.423 AC: 4466 AN: 10554

Middle Eastern (MID) AF: 0.327 AC: 96 AN: 294

European-Non Finnish (NFE) AF: 0.412 AC: 28021 AN: 67962

Other (OTH) AF: 0.427 AC: 903 AN: 2114

Alfa AF: 0.416 Hom.: 26244

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
PhyloP100		0.15

Splicing

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

Other links and lift over

dbSNP: rs8075337; hg19: chr17-32543769;