8-59255330-T-G

Variant names:

• chr8-59255330-T-G
• rs6997378

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 0.453 in 151,746 control chromosomes in the GnomAD database, including 16,024 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 0.45 (16024 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.10
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.588 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: 0.453 AC: 68647 AN: 151626 Hom.: 16002 Cov.: 32

Gnomad AFR AF: 0.408

Gnomad AMI AF: 0.716

Gnomad AMR AF: 0.599

Gnomad ASJ AF: 0.438

Gnomad EAS AF: 0.535

Gnomad SAS AF: 0.302

Gnomad FIN AF: 0.375

Gnomad MID AF: 0.500

Gnomad NFE AF: 0.459

Gnomad OTH AF: 0.505

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

GnomAD4 genome AF: 0.453 AC: 68721 AN: 151746 Hom.: 16024 Cov.: 32 AF XY: 0.450 AC XY: 33387 AN XY: 74168

African (AFR) AF: 0.409 AC: 16922 AN: 41412

American (AMR) AF: 0.598 AC: 9088 AN: 15186

Ashkenazi Jewish (ASJ) AF: 0.438 AC: 1521 AN: 3470

East Asian (EAS) AF: 0.535 AC: 2766 AN: 5174

South Asian (SAS) AF: 0.303 AC: 1459 AN: 4822

European-Finnish (FIN) AF: 0.375 AC: 3961 AN: 10564

Middle Eastern (MID) AF: 0.514 AC: 151 AN: 294

European-Non Finnish (NFE) AF: 0.459 AC: 31140 AN: 67806

Other (OTH) AF: 0.503 AC: 1060 AN: 2106

Alfa AF: 0.451 Hom.: 1927

Bravo AF: 0.478

Asia WGS AF: 0.406 AC: 1410 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.77
DANN	Benign	0.28
PhyloP100		-2.1

Splicing

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

Other links and lift over

dbSNP: rs6997378; hg19: chr8-60167889;