8-83280022-A-G

Variant names:

• chr8-83280022-A-G
• rs1608032

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 0.952 in 152,222 control chromosomes in the GnomAD database, including 69,139 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 0.95 (69139 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.217
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.959 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: 0.953 AC: 144883 AN: 152104 Hom.: 69092 Cov.: 32

Gnomad AFR AF: 0.961

Gnomad AMI AF: 0.992

Gnomad AMR AF: 0.901

Gnomad ASJ AF: 0.935

Gnomad EAS AF: 0.858

Gnomad SAS AF: 0.939

Gnomad FIN AF: 0.966

Gnomad MID AF: 0.972

Gnomad NFE AF: 0.965

Gnomad OTH AF: 0.957

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

GnomAD4 genome AF: 0.952 AC: 144984 AN: 152222 Hom.: 69139 Cov.: 32 AF XY: 0.951 AC XY: 70774 AN XY: 74414

African (AFR) AF: 0.961 AC: 39900 AN: 41532

American (AMR) AF: 0.900 AC: 13732 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.935 AC: 3242 AN: 3468

East Asian (EAS) AF: 0.858 AC: 4443 AN: 5178

South Asian (SAS) AF: 0.940 AC: 4536 AN: 4828

European-Finnish (FIN) AF: 0.966 AC: 10259 AN: 10616

Middle Eastern (MID) AF: 0.973 AC: 286 AN: 294

European-Non Finnish (NFE) AF: 0.965 AC: 65662 AN: 68024

Other (OTH) AF: 0.957 AC: 2021 AN: 2112

Alfa AF: 0.961 Hom.: 8538

Bravo AF: 0.947

Asia WGS AF: 0.889 AC: 3091 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	4.7
DANN	Benign	0.65
PhyloP100		0.22

Splicing

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

Other links and lift over

dbSNP: rs1608032; hg19: chr8-84192257;