rs182668

Variant names:

• chr16-57357479-G-A
• rs182668

Your query was ambiguous. Multiple possible variants found:

• chr16-57357479-G-A
• chr16-57357479-G-C
• chr16-57357479-G-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 0.769 in 151,940 control chromosomes in the GnomAD database, including 45,209 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 0.77 (45209 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.09
• Publications: 3 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 (NFE) allele frequency at 95% confidence interval = 0.779 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.769 AC: 116778 AN: 151820 Hom.: 45169 Cov.: 30

Gnomad AFR AF: 0.755

Gnomad AMI AF: 0.719

Gnomad AMR AF: 0.740

Gnomad ASJ AF: 0.790

Gnomad EAS AF: 0.755

Gnomad SAS AF: 0.549

Gnomad FIN AF: 0.873

Gnomad MID AF: 0.775

Gnomad NFE AF: 0.784

Gnomad OTH AF: 0.776

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

GnomAD4 genome AF: 0.769 AC: 116876 AN: 151940 Hom.: 45209 Cov.: 30 AF XY: 0.768 AC XY: 57060 AN XY: 74278

African (AFR) AF: 0.755 AC: 31258 AN: 41410

American (AMR) AF: 0.740 AC: 11273 AN: 15240

Ashkenazi Jewish (ASJ) AF: 0.790 AC: 2740 AN: 3470

East Asian (EAS) AF: 0.755 AC: 3882 AN: 5142

South Asian (SAS) AF: 0.549 AC: 2633 AN: 4798

European-Finnish (FIN) AF: 0.873 AC: 9253 AN: 10602

Middle Eastern (MID) AF: 0.779 AC: 229 AN: 294

European-Non Finnish (NFE) AF: 0.784 AC: 53311 AN: 67964

Other (OTH) AF: 0.779 AC: 1643 AN: 2110

Alfa AF: 0.787 Hom.: 5876

Bravo AF: 0.765

Asia WGS AF: 0.642 AC: 2234 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.84
DANN	Benign	0.14
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs182668; hg19: chr16-57391391;