8-81779574-T-G

Variant names:

• chr8-81779574-T-G
• rs7815272

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 0.772 in 151,974 control chromosomes in the GnomAD database, including 46,098 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 0.77 (46098 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0920
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.9 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: 0.772 AC: 117192 AN: 151856 Hom.: 46041 Cov.: 29

Gnomad AFR AF: 0.907

Gnomad AMI AF: 0.759

Gnomad AMR AF: 0.732

Gnomad ASJ AF: 0.682

Gnomad EAS AF: 0.430

Gnomad SAS AF: 0.801

Gnomad FIN AF: 0.708

Gnomad MID AF: 0.718

Gnomad NFE AF: 0.737

Gnomad OTH AF: 0.764

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

GnomAD4 genome AF: 0.772 AC: 117304 AN: 151974 Hom.: 46098 Cov.: 29 AF XY: 0.769 AC XY: 57092 AN XY: 74274

African (AFR) AF: 0.907 AC: 37614 AN: 41458

American (AMR) AF: 0.732 AC: 11166 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.682 AC: 2367 AN: 3472

East Asian (EAS) AF: 0.430 AC: 2210 AN: 5140

South Asian (SAS) AF: 0.801 AC: 3857 AN: 4816

European-Finnish (FIN) AF: 0.708 AC: 7470 AN: 10554

Middle Eastern (MID) AF: 0.707 AC: 208 AN: 294

European-Non Finnish (NFE) AF: 0.737 AC: 50110 AN: 67970

Other (OTH) AF: 0.767 AC: 1610 AN: 2100

Alfa AF: 0.744 Hom.: 178701

Bravo AF: 0.775

Asia WGS AF: 0.683 AC: 2375 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	4.2
DANN	Benign	0.48
PhyloP100		0.092

Splicing

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

Other links and lift over

dbSNP: rs7815272; hg19: chr8-82691809; COSMIC: COSV53900250;