rs1018910

Variant names:

• chr16-71244565-A-G
• rs1018910

Your query was ambiguous. Multiple possible variants found:

• chr16-71244565-A-G
• chr16-71244565-A-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 0.326 in 152,086 control chromosomes in the GnomAD database, including 8,877 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 0.33 (8877 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.215

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.447 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: 0.326 AC: 49560 AN: 151968 Hom.: 8840 Cov.: 32

Gnomad AFR AF: 0.447

Gnomad AMI AF: 0.224

Gnomad AMR AF: 0.455

Gnomad ASJ AF: 0.298

Gnomad EAS AF: 0.238

Gnomad SAS AF: 0.214

Gnomad FIN AF: 0.226

Gnomad MID AF: 0.342

Gnomad NFE AF: 0.257

Gnomad OTH AF: 0.311

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

GnomAD4 genome AF: 0.326 AC: 49652 AN: 152086 Hom.: 8877 Cov.: 32 AF XY: 0.325 AC XY: 24135 AN XY: 74346

Gnomad4 AFR AF: 0.448

Gnomad4 AMR AF: 0.456

Gnomad4 ASJ AF: 0.298

Gnomad4 EAS AF: 0.237

Gnomad4 SAS AF: 0.213

Gnomad4 FIN AF: 0.226

Gnomad4 NFE AF: 0.257

Gnomad4 OTH AF: 0.316

Alfa AF: 0.310 Hom.: 1404

Bravo AF: 0.353

Asia WGS AF: 0.289 AC: 1005 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	9.8
DANN	Benign	0.72

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1018910; hg19: chr16-71278468;