chr8-23591788-C-A

Variant names:

• chr8-23591788-C-A
• rs13264338

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 0.627 in 151,942 control chromosomes in the GnomAD database, including 30,797 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 0.63 (30797 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.366
• Publications: 10 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.837 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: 0.626 AC: 95094 AN: 151824 Hom.: 30753 Cov.: 32

Gnomad AFR AF: 0.732

Gnomad AMI AF: 0.520

Gnomad AMR AF: 0.658

Gnomad ASJ AF: 0.515

Gnomad EAS AF: 0.858

Gnomad SAS AF: 0.528

Gnomad FIN AF: 0.675

Gnomad MID AF: 0.551

Gnomad NFE AF: 0.545

Gnomad OTH AF: 0.594

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

GnomAD4 genome AF: 0.627 AC: 95202 AN: 151942 Hom.: 30797 Cov.: 32 AF XY: 0.634 AC XY: 47063 AN XY: 74240

African (AFR) AF: 0.732 AC: 30354 AN: 41450

American (AMR) AF: 0.659 AC: 10057 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.515 AC: 1783 AN: 3464

East Asian (EAS) AF: 0.858 AC: 4410 AN: 5142

South Asian (SAS) AF: 0.530 AC: 2548 AN: 4810

European-Finnish (FIN) AF: 0.675 AC: 7129 AN: 10562

Middle Eastern (MID) AF: 0.558 AC: 164 AN: 294

European-Non Finnish (NFE) AF: 0.545 AC: 37025 AN: 67932

Other (OTH) AF: 0.597 AC: 1260 AN: 2112

Alfa AF: 0.563 Hom.: 19855

Bravo AF: 0.633

Asia WGS AF: 0.706 AC: 2455 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	2.2
DANN	Benign	0.35
PhyloP100		-0.37

Splicing

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

Other links and lift over

dbSNP: rs13264338; hg19: chr8-23449301;