8-81419428-A-G

Variant names:

• chr8-81419428-A-G
• rs6995156

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 0.438 in 151,938 control chromosomes in the GnomAD database, including 16,779 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 0.44 (16779 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.420
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.682 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: 0.438 AC: 66428 AN: 151822 Hom.: 16736 Cov.: 32

Gnomad AFR AF: 0.673

Gnomad AMI AF: 0.263

Gnomad AMR AF: 0.416

Gnomad ASJ AF: 0.353

Gnomad EAS AF: 0.702

Gnomad SAS AF: 0.337

Gnomad FIN AF: 0.213

Gnomad MID AF: 0.380

Gnomad NFE AF: 0.328

Gnomad OTH AF: 0.435

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

GnomAD4 genome AF: 0.438 AC: 66526 AN: 151938 Hom.: 16779 Cov.: 32 AF XY: 0.430 AC XY: 31967 AN XY: 74274

African (AFR) AF: 0.674 AC: 27892 AN: 41394

American (AMR) AF: 0.416 AC: 6347 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.353 AC: 1225 AN: 3470

East Asian (EAS) AF: 0.701 AC: 3623 AN: 5168

South Asian (SAS) AF: 0.339 AC: 1636 AN: 4822

European-Finnish (FIN) AF: 0.213 AC: 2253 AN: 10562

Middle Eastern (MID) AF: 0.363 AC: 106 AN: 292

European-Non Finnish (NFE) AF: 0.328 AC: 22282 AN: 67936

Other (OTH) AF: 0.437 AC: 923 AN: 2114

Alfa AF: 0.336 Hom.: 3402

Bravo AF: 0.470

Asia WGS AF: 0.514 AC: 1786 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.7
DANN	Benign	0.65
PhyloP100		-0.42

Splicing

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

Other links and lift over

dbSNP: rs6995156; hg19: chr8-82331663;