rs7186163

Variant names:

• chr16-50652646-A-C
• rs7186163

Your query was ambiguous. Multiple possible variants found:

• chr16-50652646-A-C
• chr16-50652646-A-G

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 0.626 in 152,140 control chromosomes in the GnomAD database, including 30,689 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 0.63 (30689 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.266

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.7 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: 0.626 AC: 95148 AN: 152022 Hom.: 30687 Cov.: 33

Gnomad AFR AF: 0.500

Gnomad AMI AF: 0.794

Gnomad AMR AF: 0.565

Gnomad ASJ AF: 0.699

Gnomad EAS AF: 0.535

Gnomad SAS AF: 0.475

Gnomad FIN AF: 0.766

Gnomad MID AF: 0.642

Gnomad NFE AF: 0.705

Gnomad OTH AF: 0.628

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

GnomAD4 genome AF: 0.626 AC: 95176 AN: 152140 Hom.: 30689 Cov.: 33 AF XY: 0.625 AC XY: 46531 AN XY: 74392

Gnomad4 AFR AF: 0.500

Gnomad4 AMR AF: 0.565

Gnomad4 ASJ AF: 0.699

Gnomad4 EAS AF: 0.536

Gnomad4 SAS AF: 0.477

Gnomad4 FIN AF: 0.766

Gnomad4 NFE AF: 0.705

Gnomad4 OTH AF: 0.627

Alfa AF: 0.667 Hom.: 7907

Bravo AF: 0.607

Asia WGS AF: 0.499 AC: 1738 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.35
DANN	Benign	0.76

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7186163; hg19: chr16-50686557;