rs2323218

Variant names:

• chr6-166148609-G-A
• rs2323218

Your query was ambiguous. Multiple possible variants found:

• chr6-166148609-G-A
• chr6-166148609-G-C

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 0.175 in 151,988 control chromosomes in the GnomAD database, including 3,177 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 0.17 (3177 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.101
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.487 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: 0.175 AC: 26514 AN: 151870 Hom.: 3182 Cov.: 32

Gnomad AFR AF: 0.307

Gnomad AMI AF: 0.120

Gnomad AMR AF: 0.115

Gnomad ASJ AF: 0.0837

Gnomad EAS AF: 0.504

Gnomad SAS AF: 0.100

Gnomad FIN AF: 0.161

Gnomad MID AF: 0.137

Gnomad NFE AF: 0.0964

Gnomad OTH AF: 0.150

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

GnomAD4 genome AF: 0.175 AC: 26524 AN: 151988 Hom.: 3177 Cov.: 32 AF XY: 0.178 AC XY: 13207 AN XY: 74284

African (AFR) AF: 0.306 AC: 12689 AN: 41438

American (AMR) AF: 0.115 AC: 1751 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.0837 AC: 290 AN: 3466

East Asian (EAS) AF: 0.503 AC: 2586 AN: 5138

South Asian (SAS) AF: 0.101 AC: 484 AN: 4814

European-Finnish (FIN) AF: 0.161 AC: 1703 AN: 10568

Middle Eastern (MID) AF: 0.127 AC: 37 AN: 292

European-Non Finnish (NFE) AF: 0.0964 AC: 6550 AN: 67966

Other (OTH) AF: 0.154 AC: 325 AN: 2110

Alfa AF: 0.113 Hom.: 658

Bravo AF: 0.182

Asia WGS AF: 0.284 AC: 989 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.89
DANN	Benign	0.54
PhyloP100		-0.10

Splicing

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

Other links and lift over

dbSNP: rs2323218; hg19: chr6-166562097;