chr8-20241220-A-G

Variant names:

• chr8-20241220-A-G
• rs931623

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 0.498 in 151,750 control chromosomes in the GnomAD database, including 19,195 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 (19195 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.642
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.616 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: 0.498 AC: 75549 AN: 151632 Hom.: 19168 Cov.: 32

Gnomad AFR AF: 0.434

Gnomad AMI AF: 0.499

Gnomad AMR AF: 0.626

Gnomad ASJ AF: 0.588

Gnomad EAS AF: 0.491

Gnomad SAS AF: 0.571

Gnomad FIN AF: 0.466

Gnomad MID AF: 0.580

Gnomad NFE AF: 0.504

Gnomad OTH AF: 0.506

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

GnomAD4 genome AF: 0.498 AC: 75631 AN: 151750 Hom.: 19195 Cov.: 32 AF XY: 0.501 AC XY: 37167 AN XY: 74144

African (AFR) AF: 0.434 AC: 17952 AN: 41374

American (AMR) AF: 0.627 AC: 9561 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.588 AC: 2039 AN: 3466

East Asian (EAS) AF: 0.492 AC: 2530 AN: 5138

South Asian (SAS) AF: 0.573 AC: 2761 AN: 4818

European-Finnish (FIN) AF: 0.466 AC: 4899 AN: 10514

Middle Eastern (MID) AF: 0.579 AC: 169 AN: 292

European-Non Finnish (NFE) AF: 0.504 AC: 34193 AN: 67880

Other (OTH) AF: 0.509 AC: 1074 AN: 2108

Alfa AF: 0.474 Hom.: 6676

Bravo AF: 0.506

Asia WGS AF: 0.543 AC: 1890 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	2.2
DANN	Benign	0.56
PhyloP100		-0.64

Splicing

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

Other links and lift over

dbSNP: rs931623; hg19: chr8-20098731;