8-115067211-A-G

Variant names:

• chr8-115067211-A-G
• rs1353277

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 0.369 in 151,882 control chromosomes in the GnomAD database, including 12,327 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 0.37 (12327 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.529
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.781 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: 0.368 AC: 55894 AN: 151764 Hom.: 12298 Cov.: 31

Gnomad AFR AF: 0.546

Gnomad AMI AF: 0.112

Gnomad AMR AF: 0.422

Gnomad ASJ AF: 0.323

Gnomad EAS AF: 0.802

Gnomad SAS AF: 0.454

Gnomad FIN AF: 0.228

Gnomad MID AF: 0.204

Gnomad NFE AF: 0.238

Gnomad OTH AF: 0.354

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

GnomAD4 genome AF: 0.369 AC: 55981 AN: 151882 Hom.: 12327 Cov.: 31 AF XY: 0.375 AC XY: 27807 AN XY: 74240

African (AFR) AF: 0.546 AC: 22608 AN: 41402

American (AMR) AF: 0.423 AC: 6462 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.323 AC: 1119 AN: 3468

East Asian (EAS) AF: 0.802 AC: 4111 AN: 5128

South Asian (SAS) AF: 0.455 AC: 2187 AN: 4802

European-Finnish (FIN) AF: 0.228 AC: 2407 AN: 10564

Middle Eastern (MID) AF: 0.188 AC: 55 AN: 292

European-Non Finnish (NFE) AF: 0.238 AC: 16185 AN: 67952

Other (OTH) AF: 0.354 AC: 745 AN: 2104

Alfa AF: 0.280 Hom.: 2676

Bravo AF: 0.394

Asia WGS AF: 0.611 AC: 2121 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.4
DANN	Benign	0.43
PhyloP100		-0.53

Splicing

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

Other links and lift over

dbSNP: rs1353277; hg19: chr8-116079440;