8-68296131-G-T

Variant names:

• chr8-68296131-G-T
• rs6982836

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 0.341 in 151,960 control chromosomes in the GnomAD database, including 10,077 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 0.34 (10077 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.365
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.435 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: 0.341 AC: 51786 AN: 151842 Hom.: 10082 Cov.: 31

Gnomad AFR AF: 0.135

Gnomad AMI AF: 0.343

Gnomad AMR AF: 0.347

Gnomad ASJ AF: 0.392

Gnomad EAS AF: 0.395

Gnomad SAS AF: 0.453

Gnomad FIN AF: 0.456

Gnomad MID AF: 0.385

Gnomad NFE AF: 0.431

Gnomad OTH AF: 0.365

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

GnomAD4 genome AF: 0.341 AC: 51777 AN: 151960 Hom.: 10077 Cov.: 31 AF XY: 0.344 AC XY: 25540 AN XY: 74274

African (AFR) AF: 0.135 AC: 5598 AN: 41464

American (AMR) AF: 0.348 AC: 5318 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.392 AC: 1359 AN: 3466

East Asian (EAS) AF: 0.394 AC: 2028 AN: 5150

South Asian (SAS) AF: 0.451 AC: 2171 AN: 4814

European-Finnish (FIN) AF: 0.456 AC: 4815 AN: 10548

Middle Eastern (MID) AF: 0.372 AC: 108 AN: 290

European-Non Finnish (NFE) AF: 0.431 AC: 29310 AN: 67932

Other (OTH) AF: 0.361 AC: 759 AN: 2102

Alfa AF: 0.370 Hom.: 1485

Bravo AF: 0.321

Asia WGS AF: 0.398 AC: 1386 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	3.3
DANN	Benign	0.69
PhyloP100		0.36

Splicing

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

Other links and lift over

dbSNP: rs6982836; hg19: chr8-69208366;