8-93073310-G-A

Variant names:

• chr8-93073310-G-A
• rs1027730

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 0.0898 in 152,032 control chromosomes in the GnomAD database, including 890 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 0.090 (890 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.24
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.75).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.307 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: 0.0898 AC: 13638 AN: 151914 Hom.: 889 Cov.: 32

Gnomad AFR AF: 0.0372

Gnomad AMI AF: 0.114

Gnomad AMR AF: 0.147

Gnomad ASJ AF: 0.145

Gnomad EAS AF: 0.320

Gnomad SAS AF: 0.181

Gnomad FIN AF: 0.0558

Gnomad MID AF: 0.191

Gnomad NFE AF: 0.0860

Gnomad OTH AF: 0.112

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

GnomAD4 genome AF: 0.0898 AC: 13650 AN: 152032 Hom.: 890 Cov.: 32 AF XY: 0.0932 AC XY: 6926 AN XY: 74318

African (AFR) AF: 0.0374 AC: 1552 AN: 41508

American (AMR) AF: 0.148 AC: 2249 AN: 15244

Ashkenazi Jewish (ASJ) AF: 0.145 AC: 501 AN: 3466

East Asian (EAS) AF: 0.320 AC: 1645 AN: 5148

South Asian (SAS) AF: 0.180 AC: 866 AN: 4820

European-Finnish (FIN) AF: 0.0558 AC: 591 AN: 10584

Middle Eastern (MID) AF: 0.182 AC: 53 AN: 292

European-Non Finnish (NFE) AF: 0.0860 AC: 5846 AN: 67946

Other (OTH) AF: 0.115 AC: 243 AN: 2112

Alfa AF: 0.0934 Hom.: 589

Bravo AF: 0.0944

Asia WGS AF: 0.248 AC: 857 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.75
CADD	Benign	14
DANN	Benign	0.74
PhyloP100		2.2

Splicing

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

Other links and lift over

dbSNP: rs1027730; hg19: chr8-94085539; COSMIC: COSV57613645;