rs8077059

Variant names:

• chr17-57746191-C-T
• rs8077059

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 0.716 in 152,118 control chromosomes in the GnomAD database, including 39,392 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 (39392 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.113
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.76).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.794 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: 108889 AN: 152000 Hom.: 39363 Cov.: 32

Gnomad AFR AF: 0.661

Gnomad AMI AF: 0.624

Gnomad AMR AF: 0.603

Gnomad ASJ AF: 0.775

Gnomad EAS AF: 0.699

Gnomad SAS AF: 0.815

Gnomad FIN AF: 0.783

Gnomad MID AF: 0.813

Gnomad NFE AF: 0.757

Gnomad OTH AF: 0.725

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

GnomAD4 genome AF: 0.716 AC: 108958 AN: 152118 Hom.: 39392 Cov.: 32 AF XY: 0.719 AC XY: 53461 AN XY: 74360

African (AFR) AF: 0.661 AC: 27413 AN: 41484

American (AMR) AF: 0.603 AC: 9207 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.775 AC: 2688 AN: 3468

East Asian (EAS) AF: 0.700 AC: 3625 AN: 5178

South Asian (SAS) AF: 0.815 AC: 3931 AN: 4822

European-Finnish (FIN) AF: 0.783 AC: 8290 AN: 10584

Middle Eastern (MID) AF: 0.820 AC: 241 AN: 294

European-Non Finnish (NFE) AF: 0.757 AC: 51470 AN: 67998

Other (OTH) AF: 0.724 AC: 1528 AN: 2110

Alfa AF: 0.716 Hom.: 21769

Bravo AF: 0.696

Asia WGS AF: 0.742 AC: 2578 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.76
CADD	Benign	1.9
DANN	Benign	0.69
PhyloP100		-0.11

Splicing

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

Other links and lift over

dbSNP: rs8077059; hg19: chr17-55823552;