8-73987779-C-T

Variant names:

• chr8-73987779-C-T
• rs1905045

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 0.829 in 152,022 control chromosomes in the GnomAD database, including 52,722 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 0.83 (52722 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.834
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.937 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.829 AC: 125981 AN: 151904 Hom.: 52662 Cov.: 30

Gnomad AFR AF: 0.945

Gnomad AMI AF: 0.805

Gnomad AMR AF: 0.828

Gnomad ASJ AF: 0.748

Gnomad EAS AF: 0.748

Gnomad SAS AF: 0.753

Gnomad FIN AF: 0.778

Gnomad MID AF: 0.854

Gnomad NFE AF: 0.784

Gnomad OTH AF: 0.814

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

GnomAD4 genome AF: 0.829 AC: 126100 AN: 152022 Hom.: 52722 Cov.: 30 AF XY: 0.826 AC XY: 61358 AN XY: 74296

African (AFR) AF: 0.945 AC: 39188 AN: 41472

American (AMR) AF: 0.828 AC: 12635 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.748 AC: 2597 AN: 3472

East Asian (EAS) AF: 0.747 AC: 3858 AN: 5164

South Asian (SAS) AF: 0.754 AC: 3632 AN: 4816

European-Finnish (FIN) AF: 0.778 AC: 8207 AN: 10552

Middle Eastern (MID) AF: 0.850 AC: 250 AN: 294

European-Non Finnish (NFE) AF: 0.784 AC: 53282 AN: 67968

Other (OTH) AF: 0.814 AC: 1718 AN: 2110

Alfa AF: 0.804 Hom.: 103348

Bravo AF: 0.841

Asia WGS AF: 0.787 AC: 2737 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.34
DANN	Benign	0.84
PhyloP100		-0.83

Splicing

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

Other links and lift over

dbSNP: rs1905045; hg19: chr8-74900014;