chr8-63041293-A-G

Variant names:

• chr8-63041293-A-G
• rs10106324

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 0.801 in 152,174 control chromosomes in the GnomAD database, including 49,144 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 0.80 (49144 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.399
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.954 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: 0.801 AC: 121723 AN: 152056 Hom.: 49083 Cov.: 32

Gnomad AFR AF: 0.867

Gnomad AMI AF: 0.729

Gnomad AMR AF: 0.822

Gnomad ASJ AF: 0.756

Gnomad EAS AF: 0.977

Gnomad SAS AF: 0.884

Gnomad FIN AF: 0.809

Gnomad MID AF: 0.747

Gnomad NFE AF: 0.738

Gnomad OTH AF: 0.797

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

GnomAD4 genome AF: 0.801 AC: 121844 AN: 152174 Hom.: 49144 Cov.: 32 AF XY: 0.808 AC XY: 60072 AN XY: 74384

African (AFR) AF: 0.867 AC: 36004 AN: 41524

American (AMR) AF: 0.823 AC: 12575 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.756 AC: 2624 AN: 3472

East Asian (EAS) AF: 0.977 AC: 5064 AN: 5184

South Asian (SAS) AF: 0.885 AC: 4263 AN: 4816

European-Finnish (FIN) AF: 0.809 AC: 8567 AN: 10588

Middle Eastern (MID) AF: 0.752 AC: 221 AN: 294

European-Non Finnish (NFE) AF: 0.738 AC: 50171 AN: 67986

Other (OTH) AF: 0.800 AC: 1690 AN: 2112

Alfa AF: 0.770 Hom.: 17334

Bravo AF: 0.806

Asia WGS AF: 0.921 AC: 3204 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	2.4
DANN	Benign	0.46
PhyloP100		-0.40

Splicing

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

Other links and lift over

dbSNP: rs10106324; hg19: chr8-63953852;