rs218361

Variant names:

• chr8-115098496-G-A
• rs218361

Your query was ambiguous. Multiple possible variants found:

• chr8-115098496-G-A
• chr8-115098496-G-C
• chr8-115098496-G-T

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 0.495 in 151,822 control chromosomes in the GnomAD database, including 19,935 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 0.50 (19935 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.932
• Publications: 7 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 (AMR) allele frequency at 95% confidence interval = 0.587 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: 0.495 AC: 75130 AN: 151704 Hom.: 19933 Cov.: 32

Gnomad AFR AF: 0.298

Gnomad AMI AF: 0.702

Gnomad AMR AF: 0.597

Gnomad ASJ AF: 0.640

Gnomad EAS AF: 0.558

Gnomad SAS AF: 0.419

Gnomad FIN AF: 0.480

Gnomad MID AF: 0.608

Gnomad NFE AF: 0.584

Gnomad OTH AF: 0.531

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

GnomAD4 genome AF: 0.495 AC: 75159 AN: 151822 Hom.: 19935 Cov.: 32 AF XY: 0.491 AC XY: 36455 AN XY: 74174

African (AFR) AF: 0.298 AC: 12320 AN: 41406

American (AMR) AF: 0.598 AC: 9108 AN: 15238

Ashkenazi Jewish (ASJ) AF: 0.640 AC: 2217 AN: 3464

East Asian (EAS) AF: 0.558 AC: 2873 AN: 5148

South Asian (SAS) AF: 0.420 AC: 2025 AN: 4824

European-Finnish (FIN) AF: 0.480 AC: 5037 AN: 10504

Middle Eastern (MID) AF: 0.592 AC: 174 AN: 294

European-Non Finnish (NFE) AF: 0.584 AC: 39646 AN: 67920

Other (OTH) AF: 0.530 AC: 1119 AN: 2112

Alfa AF: 0.554 Hom.: 71617

Bravo AF: 0.500

Asia WGS AF: 0.490 AC: 1701 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	0.25
DANN	Benign	0.64
PhyloP100		-0.93

Splicing

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

Other links and lift over

dbSNP: rs218361; hg19: chr8-116110725;