rs374810

Positions:

• chr8-108083801-G-A

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 0.396 in 151,928 control chromosomes in the GnomAD database, including 12,789 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 0.40 (12789 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.137

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.78).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.499 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: 0.396 AC: 60098 AN: 151810 Hom.: 12779 Cov.: 32

Gnomad AFR AF: 0.216

Gnomad AMI AF: 0.374

Gnomad AMR AF: 0.411

Gnomad ASJ AF: 0.469

Gnomad EAS AF: 0.498

Gnomad SAS AF: 0.516

Gnomad FIN AF: 0.494

Gnomad MID AF: 0.509

Gnomad NFE AF: 0.466

Gnomad OTH AF: 0.421

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

GnomAD4 genome AF: 0.396 AC: 60124 AN: 151928 Hom.: 12789 Cov.: 32 AF XY: 0.401 AC XY: 29790 AN XY: 74254

Gnomad4 AFR AF: 0.215

Gnomad4 AMR AF: 0.411

Gnomad4 ASJ AF: 0.469

Gnomad4 EAS AF: 0.499

Gnomad4 SAS AF: 0.516

Gnomad4 FIN AF: 0.494

Gnomad4 NFE AF: 0.466

Gnomad4 OTH AF: 0.427

Alfa AF: 0.444 Hom.: 14508

Bravo AF: 0.380

Asia WGS AF: 0.513 AC: 1786 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.78
CADD	Benign	4.4
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: rs374810; hg19: chr8-109096029;