rs218361

chr8-115098496-G-Achr8-115098496-G-Cchr8-115098496-G-T

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 0.495 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

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 (AMR) allele frequency at 95% confidence interval = 0.587 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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

Gnomad4 AFR AF: 0.298

Gnomad4 AMR AF: 0.598

Gnomad4 ASJ AF: 0.640

Gnomad4 EAS AF: 0.558

Gnomad4 SAS AF: 0.420

Gnomad4 FIN AF: 0.480

Gnomad4 NFE AF: 0.584

Gnomad4 OTH AF: 0.530

Alfa AF: 0.569 Hom.: 46987

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs218361; hg19: chr8-116110725;