8-59266527-G-T

Variant names:

• chr8-59266527-G-T
• rs7837791

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 0.532 in 151,392 control chromosomes in the GnomAD database, including 22,136 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 0.53 (22136 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00200

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.631 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: 0.532 AC: 80476 AN: 151284 Hom.: 22099 Cov.: 31

Gnomad AFR AF: 0.637

Gnomad AMI AF: 0.692

Gnomad AMR AF: 0.625

Gnomad ASJ AF: 0.451

Gnomad EAS AF: 0.493

Gnomad SAS AF: 0.288

Gnomad FIN AF: 0.456

Gnomad MID AF: 0.484

Gnomad NFE AF: 0.480

Gnomad OTH AF: 0.550

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

GnomAD4 genome AF: 0.532 AC: 80569 AN: 151392 Hom.: 22136 Cov.: 31 AF XY: 0.527 AC XY: 38960 AN XY: 73900

Gnomad4 AFR AF: 0.638

Gnomad4 AMR AF: 0.625

Gnomad4 ASJ AF: 0.451

Gnomad4 EAS AF: 0.494

Gnomad4 SAS AF: 0.288

Gnomad4 FIN AF: 0.456

Gnomad4 NFE AF: 0.480

Gnomad4 OTH AF: 0.548

Alfa AF: 0.492 Hom.: 36836

Bravo AF: 0.560

Asia WGS AF: 0.398 AC: 1383 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	7.1
DANN	Benign	0.58

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7837791; hg19: chr8-60179086;