8-2236356-A-G

Position:

• chr8-2236356-A-G

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 0.112 in 151,538 control chromosomes in the GnomAD database, including 1,549 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 0.11 (1549 hom., cov: 35)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.09

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (Cadd=0.023).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.256 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.112 AC: 16990 AN: 151416 Hom.: 1547 Cov.: 35

Gnomad AFR AF: 0.259

Gnomad AMI AF: 0.0373

Gnomad AMR AF: 0.0536

Gnomad ASJ AF: 0.0518

Gnomad EAS AF: 0.0666

Gnomad SAS AF: 0.0789

Gnomad FIN AF: 0.0759

Gnomad MID AF: 0.0764

Gnomad NFE AF: 0.0531

Gnomad OTH AF: 0.0892

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

GnomAD4 genome AF: 0.112 AC: 17026 AN: 151538 Hom.: 1549 Cov.: 35 AF XY: 0.112 AC XY: 8274 AN XY: 74098

Gnomad4 AFR AF: 0.260

Gnomad4 AMR AF: 0.0535

Gnomad4 ASJ AF: 0.0518

Gnomad4 EAS AF: 0.0666

Gnomad4 SAS AF: 0.0789

Gnomad4 FIN AF: 0.0759

Gnomad4 NFE AF: 0.0531

Gnomad4 OTH AF: 0.0873

Alfa AF: 0.0724 Hom.: 132

Bravo AF: 0.118

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
CADD	Benign	0.023

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1824863; hg19: -;