rs8045580

Variant names:

• chr16-23001255-G-A
• rs8045580

Your query was ambiguous. Multiple possible variants found:

• chr16-23001255-G-A
• chr16-23001255-G-C

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 0.623 in 151,922 control chromosomes in the GnomAD database, including 30,944 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 0.62 (30944 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.77

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.795 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: 0.623 AC: 94527 AN: 151804 Hom.: 30926 Cov.: 31

Gnomad AFR AF: 0.803

Gnomad AMI AF: 0.663

Gnomad AMR AF: 0.463

Gnomad ASJ AF: 0.655

Gnomad EAS AF: 0.238

Gnomad SAS AF: 0.747

Gnomad FIN AF: 0.565

Gnomad MID AF: 0.703

Gnomad NFE AF: 0.576

Gnomad OTH AF: 0.628

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

GnomAD4 genome AF: 0.623 AC: 94594 AN: 151922 Hom.: 30944 Cov.: 31 AF XY: 0.620 AC XY: 46028 AN XY: 74238

Gnomad4 AFR AF: 0.803 AC: 0.80266 AN: 0.80266

Gnomad4 AMR AF: 0.462 AC: 0.462007 AN: 0.462007

Gnomad4 ASJ AF: 0.655 AC: 0.654556 AN: 0.654556

Gnomad4 EAS AF: 0.238 AC: 0.238372 AN: 0.238372

Gnomad4 SAS AF: 0.748 AC: 0.747813 AN: 0.747813

Gnomad4 FIN AF: 0.565 AC: 0.565288 AN: 0.565288

Gnomad4 NFE AF: 0.575 AC: 0.575481 AN: 0.575481

Gnomad4 OTH AF: 0.627 AC: 0.62666 AN: 0.62666

Alfa AF: 0.570 Hom.: 4346

Bravo AF: 0.616

Asia WGS AF: 0.499 AC: 1741 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.075
DANN	Benign	0.41

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8045580; hg19: chr16-23012576;