8-68296131-G-T

Variant names:

• chr8-68296131-G-T
• rs6982836

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

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

Gnomad4 AFR AF: 0.135

Gnomad4 AMR AF: 0.348

Gnomad4 ASJ AF: 0.392

Gnomad4 EAS AF: 0.394

Gnomad4 SAS AF: 0.451

Gnomad4 FIN AF: 0.456

Gnomad4 NFE AF: 0.431

Gnomad4 OTH AF: 0.361

Alfa AF: 0.380 Hom.: 1471

Bravo AF: 0.321

Asia WGS AF: 0.398 AC: 1386 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6982836; hg19: chr8-69208366;