8-80598361-G-A

Variant names:

• chr8-80598361-G-A
• rs11778905

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 0.494 in 151,826 control chromosomes in the GnomAD database, including 18,753 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 0.49 (18753 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.13
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.559 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: 0.494 AC: 74898 AN: 151708 Hom.: 18719 Cov.: 32

Gnomad AFR AF: 0.559

Gnomad AMI AF: 0.358

Gnomad AMR AF: 0.538

Gnomad ASJ AF: 0.606

Gnomad EAS AF: 0.409

Gnomad SAS AF: 0.577

Gnomad FIN AF: 0.420

Gnomad MID AF: 0.615

Gnomad NFE AF: 0.451

Gnomad OTH AF: 0.513

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

GnomAD4 genome AF: 0.494 AC: 74984 AN: 151826 Hom.: 18753 Cov.: 32 AF XY: 0.492 AC XY: 36530 AN XY: 74176

African (AFR) AF: 0.560 AC: 23177 AN: 41408

American (AMR) AF: 0.539 AC: 8228 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.606 AC: 2099 AN: 3462

East Asian (EAS) AF: 0.410 AC: 2115 AN: 5160

South Asian (SAS) AF: 0.576 AC: 2767 AN: 4800

European-Finnish (FIN) AF: 0.420 AC: 4418 AN: 10524

Middle Eastern (MID) AF: 0.613 AC: 179 AN: 292

European-Non Finnish (NFE) AF: 0.451 AC: 30609 AN: 67902

Other (OTH) AF: 0.509 AC: 1069 AN: 2102

Alfa AF: 0.481 Hom.: 15155

Bravo AF: 0.505

Asia WGS AF: 0.445 AC: 1545 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.037
DANN	Benign	0.87
PhyloP100		-2.1

Splicing

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

Other links and lift over

dbSNP: rs11778905; hg19: chr8-81510596;