8-5821610-A-G

Variant names:

• chr8-5821610-A-G
• rs7013836

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 0.647 in 151,736 control chromosomes in the GnomAD database, including 32,702 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 0.65 (32702 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.509
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.728 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: 0.647 AC: 98154 AN: 151622 Hom.: 32702 Cov.: 31

Gnomad AFR AF: 0.485

Gnomad AMI AF: 0.737

Gnomad AMR AF: 0.659

Gnomad ASJ AF: 0.766

Gnomad EAS AF: 0.595

Gnomad SAS AF: 0.688

Gnomad FIN AF: 0.666

Gnomad MID AF: 0.662

Gnomad NFE AF: 0.734

Gnomad OTH AF: 0.675

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

GnomAD4 genome AF: 0.647 AC: 98178 AN: 151736 Hom.: 32702 Cov.: 31 AF XY: 0.644 AC XY: 47765 AN XY: 74136

African (AFR) AF: 0.484 AC: 20053 AN: 41424

American (AMR) AF: 0.658 AC: 10031 AN: 15242

Ashkenazi Jewish (ASJ) AF: 0.766 AC: 2656 AN: 3466

East Asian (EAS) AF: 0.595 AC: 3064 AN: 5152

South Asian (SAS) AF: 0.689 AC: 3320 AN: 4818

European-Finnish (FIN) AF: 0.666 AC: 6967 AN: 10466

Middle Eastern (MID) AF: 0.689 AC: 197 AN: 286

European-Non Finnish (NFE) AF: 0.734 AC: 49797 AN: 67866

Other (OTH) AF: 0.675 AC: 1422 AN: 2106

Alfa AF: 0.588 Hom.: 1932

Bravo AF: 0.640

Asia WGS AF: 0.623 AC: 2154 AN: 3452

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	4.3
DANN	Benign	0.83
PhyloP100		0.51

Splicing

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

Other links and lift over

dbSNP: rs7013836; hg19: chr8-5679132;