17-71391017-T-G

Variant names:

• chr17-71391017-T-G
• rs8075188

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 0.717 in 152,034 control chromosomes in the GnomAD database, including 39,088 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 0.72 (39088 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.20
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.07).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.798 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: 0.716 AC: 108837 AN: 151916 Hom.: 39040 Cov.: 31

Gnomad AFR AF: 0.694

Gnomad AMI AF: 0.657

Gnomad AMR AF: 0.727

Gnomad ASJ AF: 0.712

Gnomad EAS AF: 0.819

Gnomad SAS AF: 0.703

Gnomad FIN AF: 0.751

Gnomad MID AF: 0.690

Gnomad NFE AF: 0.717

Gnomad OTH AF: 0.708

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

GnomAD4 genome AF: 0.717 AC: 108941 AN: 152034 Hom.: 39088 Cov.: 31 AF XY: 0.719 AC XY: 53461 AN XY: 74312

African (AFR) AF: 0.694 AC: 28747 AN: 41418

American (AMR) AF: 0.727 AC: 11119 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.712 AC: 2470 AN: 3470

East Asian (EAS) AF: 0.819 AC: 4223 AN: 5156

South Asian (SAS) AF: 0.703 AC: 3386 AN: 4814

European-Finnish (FIN) AF: 0.751 AC: 7948 AN: 10588

Middle Eastern (MID) AF: 0.687 AC: 202 AN: 294

European-Non Finnish (NFE) AF: 0.717 AC: 48751 AN: 67984

Other (OTH) AF: 0.708 AC: 1496 AN: 2112

Alfa AF: 0.713 Hom.: 57775

Bravo AF: 0.713

Asia WGS AF: 0.739 AC: 2574 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	0.18
DANN	Benign	0.46
PhyloP100		-2.2

Splicing

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

Other links and lift over

dbSNP: rs8075188; hg19: chr17-69387158;