8-137365529-A-T

Variant names:

• chr8-137365529-A-T
• rs6577782

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 0.294 in 151,888 control chromosomes in the GnomAD database, including 7,759 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 0.29 (7759 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.45
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.481 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: 0.294 AC: 44552 AN: 151770 Hom.: 7730 Cov.: 32

Gnomad AFR AF: 0.486

Gnomad AMI AF: 0.318

Gnomad AMR AF: 0.233

Gnomad ASJ AF: 0.248

Gnomad EAS AF: 0.290

Gnomad SAS AF: 0.243

Gnomad FIN AF: 0.146

Gnomad MID AF: 0.335

Gnomad NFE AF: 0.219

Gnomad OTH AF: 0.278

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

GnomAD4 genome AF: 0.294 AC: 44627 AN: 151888 Hom.: 7759 Cov.: 32 AF XY: 0.289 AC XY: 21431 AN XY: 74264

African (AFR) AF: 0.487 AC: 20159 AN: 41420

American (AMR) AF: 0.233 AC: 3545 AN: 15240

Ashkenazi Jewish (ASJ) AF: 0.248 AC: 858 AN: 3464

East Asian (EAS) AF: 0.290 AC: 1495 AN: 5156

South Asian (SAS) AF: 0.244 AC: 1175 AN: 4814

European-Finnish (FIN) AF: 0.146 AC: 1545 AN: 10604

Middle Eastern (MID) AF: 0.340 AC: 100 AN: 294

European-Non Finnish (NFE) AF: 0.219 AC: 14873 AN: 67874

Other (OTH) AF: 0.278 AC: 587 AN: 2110

Alfa AF: 0.264 Hom.: 763

Bravo AF: 0.308

Asia WGS AF: 0.274 AC: 950 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.64
DANN	Benign	0.31
PhyloP100		-1.5

Splicing

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

Other links and lift over

dbSNP: rs6577782; hg19: chr8-138377772;