17-34485299-G-C

Variant names:

• chr17-34485299-G-C
• rs295095

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 0.824 in 152,146 control chromosomes in the GnomAD database, including 51,695 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 0.82 (51695 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0930
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.823 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: 0.824 AC: 125242 AN: 152028 Hom.: 51638 Cov.: 32

Gnomad AFR AF: 0.816

Gnomad AMI AF: 0.879

Gnomad AMR AF: 0.834

Gnomad ASJ AF: 0.844

Gnomad EAS AF: 0.833

Gnomad SAS AF: 0.770

Gnomad FIN AF: 0.824

Gnomad MID AF: 0.775

Gnomad NFE AF: 0.828

Gnomad OTH AF: 0.802

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

GnomAD4 genome AF: 0.824 AC: 125354 AN: 152146 Hom.: 51695 Cov.: 32 AF XY: 0.821 AC XY: 61094 AN XY: 74370

African (AFR) AF: 0.816 AC: 33886 AN: 41514

American (AMR) AF: 0.834 AC: 12768 AN: 15308

Ashkenazi Jewish (ASJ) AF: 0.844 AC: 2929 AN: 3470

East Asian (EAS) AF: 0.833 AC: 4281 AN: 5140

South Asian (SAS) AF: 0.770 AC: 3714 AN: 4824

European-Finnish (FIN) AF: 0.824 AC: 8727 AN: 10590

Middle Eastern (MID) AF: 0.779 AC: 229 AN: 294

European-Non Finnish (NFE) AF: 0.828 AC: 56325 AN: 67986

Other (OTH) AF: 0.803 AC: 1693 AN: 2108

Alfa AF: 0.821 Hom.: 6385

Bravo AF: 0.826

Asia WGS AF: 0.786 AC: 2734 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	1.7
DANN	Benign	0.61
PhyloP100		-0.093

Splicing

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

Other links and lift over

dbSNP: rs295095; hg19: chr17-32812318;