rs2981205

chr8-106832219-C-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 0.186 in 152,168 control chromosomes in the GnomAD database, including 2,845 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 0.19 (2845 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.104

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.226 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: 0.186 AC: 28308 AN: 152050 Hom.: 2847 Cov.: 33

Gnomad AFR AF: 0.134

Gnomad AMI AF: 0.315

Gnomad AMR AF: 0.172

Gnomad ASJ AF: 0.167

Gnomad EAS AF: 0.0743

Gnomad SAS AF: 0.201

Gnomad FIN AF: 0.174

Gnomad MID AF: 0.199

Gnomad NFE AF: 0.229

Gnomad OTH AF: 0.191

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

GnomAD4 genome AF: 0.186 AC: 28308 AN: 152168 Hom.: 2845 Cov.: 33 AF XY: 0.182 AC XY: 13564 AN XY: 74386

Gnomad4 AFR AF: 0.134

Gnomad4 AMR AF: 0.172

Gnomad4 ASJ AF: 0.167

Gnomad4 EAS AF: 0.0745

Gnomad4 SAS AF: 0.202

Gnomad4 FIN AF: 0.174

Gnomad4 NFE AF: 0.229

Gnomad4 OTH AF: 0.189

Alfa AF: 0.204 Hom.: 446

Bravo AF: 0.181

Asia WGS AF: 0.116 AC: 402 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
Cadd	Benign	6.7
Dann	Benign	0.72

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2981205; hg19: chr8-107844447;