rs8071740

Variant names:

• chr17-27198705-A-G
• rs8071740

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 0.435 in 151,938 control chromosomes in the GnomAD database, including 15,616 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 0.43 (15616 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.00600
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.622 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.434 AC: 65915 AN: 151820 Hom.: 15565 Cov.: 31

Gnomad AFR AF: 0.628

Gnomad AMI AF: 0.322

Gnomad AMR AF: 0.448

Gnomad ASJ AF: 0.336

Gnomad EAS AF: 0.521

Gnomad SAS AF: 0.385

Gnomad FIN AF: 0.326

Gnomad MID AF: 0.377

Gnomad NFE AF: 0.335

Gnomad OTH AF: 0.417

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

GnomAD4 genome AF: 0.435 AC: 66029 AN: 151938 Hom.: 15616 Cov.: 31 AF XY: 0.435 AC XY: 32323 AN XY: 74288

African (AFR) AF: 0.628 AC: 26022 AN: 41416

American (AMR) AF: 0.449 AC: 6854 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.336 AC: 1164 AN: 3466

East Asian (EAS) AF: 0.521 AC: 2680 AN: 5140

South Asian (SAS) AF: 0.384 AC: 1847 AN: 4804

European-Finnish (FIN) AF: 0.326 AC: 3456 AN: 10592

Middle Eastern (MID) AF: 0.381 AC: 112 AN: 294

European-Non Finnish (NFE) AF: 0.335 AC: 22725 AN: 67934

Other (OTH) AF: 0.415 AC: 876 AN: 2110

Alfa AF: 0.402 Hom.: 2286

Bravo AF: 0.454

Asia WGS AF: 0.440 AC: 1529 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	3.7
DANN	Benign	0.59
PhyloP100		-0.0060

Splicing

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

Other links and lift over

dbSNP: rs8071740; hg19: chr17-25525731;