chr8-90132496-T-C

Variant names:

• chr8-90132496-T-C
• rs7831184

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 0.544 in 152,072 control chromosomes in the GnomAD database, including 24,188 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 0.54 (24188 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00400
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.668 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: 0.545 AC: 82776 AN: 151954 Hom.: 24194 Cov.: 33

Gnomad AFR AF: 0.353

Gnomad AMI AF: 0.731

Gnomad AMR AF: 0.489

Gnomad ASJ AF: 0.698

Gnomad EAS AF: 0.307

Gnomad SAS AF: 0.533

Gnomad FIN AF: 0.595

Gnomad MID AF: 0.690

Gnomad NFE AF: 0.673

Gnomad OTH AF: 0.570

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

GnomAD4 genome AF: 0.544 AC: 82788 AN: 152072 Hom.: 24188 Cov.: 33 AF XY: 0.538 AC XY: 40000 AN XY: 74352

African (AFR) AF: 0.353 AC: 14651 AN: 41506

American (AMR) AF: 0.489 AC: 7470 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.698 AC: 2423 AN: 3470

East Asian (EAS) AF: 0.309 AC: 1599 AN: 5176

South Asian (SAS) AF: 0.531 AC: 2559 AN: 4822

European-Finnish (FIN) AF: 0.595 AC: 6271 AN: 10544

Middle Eastern (MID) AF: 0.687 AC: 202 AN: 294

European-Non Finnish (NFE) AF: 0.673 AC: 45754 AN: 67962

Other (OTH) AF: 0.565 AC: 1192 AN: 2108

Alfa AF: 0.584 Hom.: 10313

Bravo AF: 0.528

Asia WGS AF: 0.396 AC: 1380 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.8
DANN	Benign	0.57
PhyloP100		0.0040

Splicing

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

Other links and lift over

dbSNP: rs7831184; hg19: chr8-91144724;