rs295095

Variant names:

• chr17-34485299-G-C
• rs295095

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 0.824 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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.816

Gnomad4 AMR AF: 0.834

Gnomad4 ASJ AF: 0.844

Gnomad4 EAS AF: 0.833

Gnomad4 SAS AF: 0.770

Gnomad4 FIN AF: 0.824

Gnomad4 NFE AF: 0.828

Gnomad4 OTH AF: 0.803

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs295095; hg19: chr17-32812318;