rs1481812

chr8-71138170-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 0.0799 in 152,120 control chromosomes in the GnomAD database, including 532 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 0.080 (532 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.428

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.114 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: 0.0799 AC: 12143 AN: 152002 Hom.: 532 Cov.: 32

Gnomad AFR AF: 0.0806

Gnomad AMI AF: 0.0846

Gnomad AMR AF: 0.0515

Gnomad ASJ AF: 0.0804

Gnomad EAS AF: 0.00250

Gnomad SAS AF: 0.122

Gnomad FIN AF: 0.0550

Gnomad MID AF: 0.0380

Gnomad NFE AF: 0.0931

Gnomad OTH AF: 0.0686

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

GnomAD4 genome AF: 0.0799 AC: 12160 AN: 152120 Hom.: 532 Cov.: 32 AF XY: 0.0784 AC XY: 5826 AN XY: 74350

Gnomad4 AFR AF: 0.0808

Gnomad4 AMR AF: 0.0516

Gnomad4 ASJ AF: 0.0804

Gnomad4 EAS AF: 0.00250

Gnomad4 SAS AF: 0.122

Gnomad4 FIN AF: 0.0550

Gnomad4 NFE AF: 0.0931

Gnomad4 OTH AF: 0.0674

Alfa AF: 0.0876 Hom.: 831

Bravo AF: 0.0765

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
Cadd	Benign	3.8
Dann	Benign	0.61

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1481812; hg19: chr8-72050405;