17-34284427-A-G

Variant names:

• chr17-34284427-A-G
• rs4795895

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 0.863 in 152,174 control chromosomes in the GnomAD database, including 57,067 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 0.86 (57067 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0210

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 (AFR) allele frequency at 95% confidence interval = 0.951 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: 0.863 AC: 131228 AN: 152056 Hom.: 57001 Cov.: 31

Gnomad AFR AF: 0.958

Gnomad AMI AF: 0.498

Gnomad AMR AF: 0.870

Gnomad ASJ AF: 0.846

Gnomad EAS AF: 0.921

Gnomad SAS AF: 0.919

Gnomad FIN AF: 0.838

Gnomad MID AF: 0.816

Gnomad NFE AF: 0.806

Gnomad OTH AF: 0.840

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

GnomAD4 genome AF: 0.863 AC: 131356 AN: 152174 Hom.: 57067 Cov.: 31 AF XY: 0.867 AC XY: 64498 AN XY: 74376

Gnomad4 AFR AF: 0.959

Gnomad4 AMR AF: 0.870

Gnomad4 ASJ AF: 0.846

Gnomad4 EAS AF: 0.921

Gnomad4 SAS AF: 0.918

Gnomad4 FIN AF: 0.838

Gnomad4 NFE AF: 0.806

Gnomad4 OTH AF: 0.840

Alfa AF: 0.815 Hom.: 102215

Bravo AF: 0.867

Asia WGS AF: 0.921 AC: 3203 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	2.1
DANN	Benign	0.51

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4795895; hg19: chr17-32611446;