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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.769 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

Gnomad4 AFR AF: 0.755

Gnomad4 AMR AF: 0.740

Gnomad4 ASJ AF: 0.790

Gnomad4 EAS AF: 0.755

Gnomad4 SAS AF: 0.549

Gnomad4 FIN AF: 0.873

Gnomad4 NFE AF: 0.784

Gnomad4 OTH AF: 0.779

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 v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs182668; hg19: chr16-57391391;