rs295095

Positions:

• chr17-34485299-G-C

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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;