rs16938215

Variant names:

• chr8-72446353-C-T
• rs16938215

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 0.0865 in 151,928 control chromosomes in the GnomAD database, including 720 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 0.087 (720 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.605
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.175 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: 0.0866 AC: 13150 AN: 151814 Hom.: 720 Cov.: 32

Gnomad AFR AF: 0.0513

Gnomad AMI AF: 0.0702

Gnomad AMR AF: 0.156

Gnomad ASJ AF: 0.0427

Gnomad EAS AF: 0.185

Gnomad SAS AF: 0.0704

Gnomad FIN AF: 0.0930

Gnomad MID AF: 0.0796

Gnomad NFE AF: 0.0875

Gnomad OTH AF: 0.0982

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

GnomAD4 genome AF: 0.0865 AC: 13143 AN: 151928 Hom.: 720 Cov.: 32 AF XY: 0.0877 AC XY: 6505 AN XY: 74212

African (AFR) AF: 0.0511 AC: 2121 AN: 41476

American (AMR) AF: 0.155 AC: 2367 AN: 15244

Ashkenazi Jewish (ASJ) AF: 0.0427 AC: 148 AN: 3468

East Asian (EAS) AF: 0.185 AC: 951 AN: 5150

South Asian (SAS) AF: 0.0707 AC: 340 AN: 4812

European-Finnish (FIN) AF: 0.0930 AC: 980 AN: 10536

Middle Eastern (MID) AF: 0.0788 AC: 23 AN: 292

European-Non Finnish (NFE) AF: 0.0875 AC: 5943 AN: 67930

Other (OTH) AF: 0.0977 AC: 206 AN: 2108

Alfa AF: 0.0846 Hom.: 668

Bravo AF: 0.0910

Asia WGS AF: 0.119 AC: 416 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	5.5
DANN	Benign	0.40
PhyloP100		0.60

Splicing

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

Other links and lift over

dbSNP: rs16938215; hg19: chr8-73358588;