chr8-73987673-G-A

Variant names:

• chr8-73987673-G-A
• rs7843858

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 0.247 in 152,092 control chromosomes in the GnomAD database, including 5,708 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 0.25 (5708 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.517
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.41 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: 0.246 AC: 37459 AN: 151974 Hom.: 5692 Cov.: 33

Gnomad AFR AF: 0.415

Gnomad AMI AF: 0.197

Gnomad AMR AF: 0.320

Gnomad ASJ AF: 0.298

Gnomad EAS AF: 0.126

Gnomad SAS AF: 0.220

Gnomad FIN AF: 0.140

Gnomad MID AF: 0.361

Gnomad NFE AF: 0.153

Gnomad OTH AF: 0.250

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

GnomAD4 genome AF: 0.247 AC: 37518 AN: 152092 Hom.: 5708 Cov.: 33 AF XY: 0.247 AC XY: 18366 AN XY: 74356

African (AFR) AF: 0.415 AC: 17207 AN: 41430

American (AMR) AF: 0.321 AC: 4892 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.298 AC: 1033 AN: 3472

East Asian (EAS) AF: 0.125 AC: 650 AN: 5190

South Asian (SAS) AF: 0.220 AC: 1059 AN: 4824

European-Finnish (FIN) AF: 0.140 AC: 1489 AN: 10604

Middle Eastern (MID) AF: 0.350 AC: 103 AN: 294

European-Non Finnish (NFE) AF: 0.153 AC: 10376 AN: 67992

Other (OTH) AF: 0.250 AC: 529 AN: 2112

Alfa AF: 0.281 Hom.: 2958

Bravo AF: 0.267

Asia WGS AF: 0.229 AC: 795 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	2.7
DANN	Benign	0.34
PhyloP100		-0.52

Splicing

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

Other links and lift over

dbSNP: rs7843858; hg19: chr8-74899908;