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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.306

Gnomad4 AMR AF: 0.115

Gnomad4 ASJ AF: 0.0837

Gnomad4 EAS AF: 0.503

Gnomad4 SAS AF: 0.101

Gnomad4 FIN AF: 0.161

Gnomad4 NFE AF: 0.0964

Gnomad4 OTH AF: 0.154

Alfa AF: 0.112 Hom.: 575

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2323218; hg19: chr6-166562097;