rs8071941

Variant names:

• chr17-43732945-G-A
• rs8071941

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 0.583 in 151,926 control chromosomes in the GnomAD database, including 26,718 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 0.58 (26718 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0130
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.654 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: 0.583 AC: 88581 AN: 151810 Hom.: 26695 Cov.: 31

Gnomad AFR AF: 0.449

Gnomad AMI AF: 0.608

Gnomad AMR AF: 0.580

Gnomad ASJ AF: 0.641

Gnomad EAS AF: 0.419

Gnomad SAS AF: 0.672

Gnomad FIN AF: 0.764

Gnomad MID AF: 0.576

Gnomad NFE AF: 0.642

Gnomad OTH AF: 0.568

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

GnomAD4 genome AF: 0.583 AC: 88625 AN: 151926 Hom.: 26718 Cov.: 31 AF XY: 0.589 AC XY: 43694 AN XY: 74244

African (AFR) AF: 0.448 AC: 18553 AN: 41392

American (AMR) AF: 0.579 AC: 8843 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.641 AC: 2223 AN: 3468

East Asian (EAS) AF: 0.420 AC: 2164 AN: 5158

South Asian (SAS) AF: 0.673 AC: 3236 AN: 4808

European-Finnish (FIN) AF: 0.764 AC: 8071 AN: 10564

Middle Eastern (MID) AF: 0.575 AC: 169 AN: 294

European-Non Finnish (NFE) AF: 0.642 AC: 43606 AN: 67954

Other (OTH) AF: 0.571 AC: 1208 AN: 2114

Alfa AF: 0.615 Hom.: 7613

Bravo AF: 0.559

Asia WGS AF: 0.542 AC: 1886 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	4.0
DANN	Benign	0.54
PhyloP100		-0.013

Splicing

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

Other links and lift over

dbSNP: rs8071941; hg19: chr17-41810313;