chr8-27134288-T-G

Variant names:

• chr8-27134288-T-G
• rs1584233

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 0.448 in 152,004 control chromosomes in the GnomAD database, including 15,503 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 (15503 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.427
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.648 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: 0.448 AC: 68004 AN: 151886 Hom.: 15486 Cov.: 33

Gnomad AFR AF: 0.431

Gnomad AMI AF: 0.401

Gnomad AMR AF: 0.537

Gnomad ASJ AF: 0.480

Gnomad EAS AF: 0.666

Gnomad SAS AF: 0.502

Gnomad FIN AF: 0.348

Gnomad MID AF: 0.487

Gnomad NFE AF: 0.431

Gnomad OTH AF: 0.470

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

GnomAD4 genome AF: 0.448 AC: 68059 AN: 152004 Hom.: 15503 Cov.: 33 AF XY: 0.450 AC XY: 33427 AN XY: 74330

African (AFR) AF: 0.431 AC: 17843 AN: 41446

American (AMR) AF: 0.537 AC: 8206 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.480 AC: 1664 AN: 3464

East Asian (EAS) AF: 0.666 AC: 3443 AN: 5168

South Asian (SAS) AF: 0.504 AC: 2431 AN: 4824

European-Finnish (FIN) AF: 0.348 AC: 3672 AN: 10548

Middle Eastern (MID) AF: 0.483 AC: 141 AN: 292

European-Non Finnish (NFE) AF: 0.431 AC: 29307 AN: 67960

Other (OTH) AF: 0.467 AC: 988 AN: 2114

Alfa AF: 0.434 Hom.: 1887

Bravo AF: 0.461

Asia WGS AF: 0.545 AC: 1891 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	5.7
DANN	Benign	0.66
PhyloP100		-0.43

Splicing

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

Other links and lift over

dbSNP: rs1584233; hg19: chr8-26991805;