rs7187223

Variant names:

• chr16-82424128-A-G
• rs7187223

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 0.0552 in 152,262 control chromosomes in the GnomAD database, including 262 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 0.055 (262 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0390
• Publications: 13 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.123 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: 0.0552 AC: 8401 AN: 152144 Hom.: 261 Cov.: 32

Gnomad AFR AF: 0.0683

Gnomad AMI AF: 0.0208

Gnomad AMR AF: 0.0660

Gnomad ASJ AF: 0.0476

Gnomad EAS AF: 0.0750

Gnomad SAS AF: 0.132

Gnomad FIN AF: 0.0314

Gnomad MID AF: 0.0538

Gnomad NFE AF: 0.0424

Gnomad OTH AF: 0.0550

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

GnomAD4 genome AF: 0.0552 AC: 8410 AN: 152262 Hom.: 262 Cov.: 32 AF XY: 0.0573 AC XY: 4267 AN XY: 74450

African (AFR) AF: 0.0684 AC: 2842 AN: 41554

American (AMR) AF: 0.0658 AC: 1006 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.0476 AC: 165 AN: 3470

East Asian (EAS) AF: 0.0755 AC: 391 AN: 5178

South Asian (SAS) AF: 0.132 AC: 636 AN: 4824

European-Finnish (FIN) AF: 0.0314 AC: 333 AN: 10606

Middle Eastern (MID) AF: 0.0578 AC: 17 AN: 294

European-Non Finnish (NFE) AF: 0.0424 AC: 2886 AN: 68020

Other (OTH) AF: 0.0545 AC: 115 AN: 2112

Alfa AF: 0.0482 Hom.: 308

Bravo AF: 0.0568

Asia WGS AF: 0.100 AC: 346 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	1.8
DANN	Benign	0.54
PhyloP100		-0.039

Splicing

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

Other links and lift over

dbSNP: rs7187223; hg19: chr16-82457733;