rs8060546

Variant names:

• chr16-86449631-C-A
• rs8060546

Your query was ambiguous. Multiple possible variants found:

• chr16-86449631-C-A
• chr16-86449631-C-T

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 0.142 in 152,132 control chromosomes in the GnomAD database, including 1,675 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 0.14 (1675 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.555
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.246 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: 0.142 AC: 21605 AN: 152014 Hom.: 1672 Cov.: 32

Gnomad AFR AF: 0.198

Gnomad AMI AF: 0.0493

Gnomad AMR AF: 0.175

Gnomad ASJ AF: 0.133

Gnomad EAS AF: 0.0708

Gnomad SAS AF: 0.257

Gnomad FIN AF: 0.0819

Gnomad MID AF: 0.161

Gnomad NFE AF: 0.109

Gnomad OTH AF: 0.136

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

GnomAD4 genome AF: 0.142 AC: 21625 AN: 152132 Hom.: 1675 Cov.: 32 AF XY: 0.144 AC XY: 10688 AN XY: 74400

African (AFR) AF: 0.198 AC: 8193 AN: 41438

American (AMR) AF: 0.175 AC: 2681 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.133 AC: 461 AN: 3472

East Asian (EAS) AF: 0.0707 AC: 366 AN: 5174

South Asian (SAS) AF: 0.258 AC: 1241 AN: 4812

European-Finnish (FIN) AF: 0.0819 AC: 870 AN: 10624

Middle Eastern (MID) AF: 0.163 AC: 48 AN: 294

European-Non Finnish (NFE) AF: 0.109 AC: 7433 AN: 68012

Other (OTH) AF: 0.136 AC: 287 AN: 2112

Alfa AF: 0.121 Hom.: 2419

Bravo AF: 0.148

Asia WGS AF: 0.168 AC: 583 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	4.9
DANN	Benign	0.73
PhyloP100		0.56

Splicing

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

Other links and lift over

dbSNP: rs8060546; hg19: chr16-86483237;