8-73990288-A-G

Variant names:

• chr8-73990288-A-G
• rs1809440

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 0.47 in 151,828 control chromosomes in the GnomAD database, including 16,871 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 0.47 (16871 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.345
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.75).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.527 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.470 AC: 71316 AN: 151710 Hom.: 16842 Cov.: 32

Gnomad AFR AF: 0.488

Gnomad AMI AF: 0.600

Gnomad AMR AF: 0.536

Gnomad ASJ AF: 0.410

Gnomad EAS AF: 0.317

Gnomad SAS AF: 0.521

Gnomad FIN AF: 0.475

Gnomad MID AF: 0.475

Gnomad NFE AF: 0.454

Gnomad OTH AF: 0.458

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

GnomAD4 genome AF: 0.470 AC: 71383 AN: 151828 Hom.: 16871 Cov.: 32 AF XY: 0.473 AC XY: 35072 AN XY: 74206

African (AFR) AF: 0.488 AC: 20167 AN: 41344

American (AMR) AF: 0.536 AC: 8194 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.410 AC: 1421 AN: 3470

East Asian (EAS) AF: 0.316 AC: 1628 AN: 5158

South Asian (SAS) AF: 0.520 AC: 2504 AN: 4812

European-Finnish (FIN) AF: 0.475 AC: 4997 AN: 10526

Middle Eastern (MID) AF: 0.466 AC: 136 AN: 292

European-Non Finnish (NFE) AF: 0.454 AC: 30828 AN: 67936

Other (OTH) AF: 0.458 AC: 964 AN: 2106

Alfa AF: 0.460 Hom.: 2026

Bravo AF: 0.476

Asia WGS AF: 0.455 AC: 1582 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.75
CADD	Benign	9.5
DANN	Benign	0.85
PhyloP100		0.34

Splicing

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

Other links and lift over

dbSNP: rs1809440; hg19: chr8-74902523;