8-55586967-G-A

Variant names:

• chr8-55586967-G-A
• rs4738287

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 0.887 in 152,076 control chromosomes in the GnomAD database, including 60,142 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 0.89 (60142 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.40
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.975 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: 0.887 AC: 134766 AN: 151958 Hom.: 60087 Cov.: 30

Gnomad AFR AF: 0.971

Gnomad AMI AF: 0.930

Gnomad AMR AF: 0.864

Gnomad ASJ AF: 0.861

Gnomad EAS AF: 0.998

Gnomad SAS AF: 0.922

Gnomad FIN AF: 0.829

Gnomad MID AF: 0.949

Gnomad NFE AF: 0.839

Gnomad OTH AF: 0.902

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

GnomAD4 genome AF: 0.887 AC: 134880 AN: 152076 Hom.: 60142 Cov.: 30 AF XY: 0.888 AC XY: 65981 AN XY: 74310

African (AFR) AF: 0.971 AC: 40321 AN: 41516

American (AMR) AF: 0.864 AC: 13192 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.861 AC: 2986 AN: 3468

East Asian (EAS) AF: 0.998 AC: 5158 AN: 5168

South Asian (SAS) AF: 0.921 AC: 4419 AN: 4798

European-Finnish (FIN) AF: 0.829 AC: 8745 AN: 10548

Middle Eastern (MID) AF: 0.946 AC: 278 AN: 294

European-Non Finnish (NFE) AF: 0.839 AC: 57032 AN: 67992

Other (OTH) AF: 0.904 AC: 1901 AN: 2104

Alfa AF: 0.856 Hom.: 30659

Bravo AF: 0.895

Asia WGS AF: 0.969 AC: 3368 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.014
DANN	Benign	0.26
PhyloP100		-1.4

Splicing

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

Other links and lift over

dbSNP: rs4738287; hg19: chr8-56499526;