chr8-142036532-G-A

Variant names:

• chr8-142036532-G-A
• rs7815624

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 0.38 in 152,030 control chromosomes in the GnomAD database, including 12,245 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 0.38 (12245 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.779
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.469 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: 0.380 AC: 57727 AN: 151912 Hom.: 12254 Cov.: 32

Gnomad AFR AF: 0.167

Gnomad AMI AF: 0.428

Gnomad AMR AF: 0.436

Gnomad ASJ AF: 0.396

Gnomad EAS AF: 0.443

Gnomad SAS AF: 0.430

Gnomad FIN AF: 0.466

Gnomad MID AF: 0.367

Gnomad NFE AF: 0.474

Gnomad OTH AF: 0.388

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

GnomAD4 genome AF: 0.380 AC: 57712 AN: 152030 Hom.: 12245 Cov.: 32 AF XY: 0.382 AC XY: 28393 AN XY: 74318

African (AFR) AF: 0.166 AC: 6892 AN: 41466

American (AMR) AF: 0.436 AC: 6663 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.396 AC: 1374 AN: 3468

East Asian (EAS) AF: 0.443 AC: 2291 AN: 5172

South Asian (SAS) AF: 0.429 AC: 2069 AN: 4822

European-Finnish (FIN) AF: 0.466 AC: 4916 AN: 10548

Middle Eastern (MID) AF: 0.361 AC: 106 AN: 294

European-Non Finnish (NFE) AF: 0.474 AC: 32203 AN: 67972

Other (OTH) AF: 0.384 AC: 811 AN: 2114

Alfa AF: 0.419 Hom.: 1781

Bravo AF: 0.364

Asia WGS AF: 0.378 AC: 1312 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	2.3
DANN	Benign	0.83
PhyloP100		-0.78

Splicing

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

Other links and lift over

dbSNP: rs7815624; hg19: chr8-143117893;