8-18323560-A-G

Variant names:

• chr8-18323560-A-G
• rs12541267

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 0.385 in 151,962 control chromosomes in the GnomAD database, including 12,175 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 0.39 (12175 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.447
• Publications: 3 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 (SAS) allele frequency at 95% confidence interval = 0.515 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: 0.385 AC: 58488 AN: 151844 Hom.: 12174 Cov.: 31

Gnomad AFR AF: 0.217

Gnomad AMI AF: 0.596

Gnomad AMR AF: 0.475

Gnomad ASJ AF: 0.399

Gnomad EAS AF: 0.456

Gnomad SAS AF: 0.533

Gnomad FIN AF: 0.458

Gnomad MID AF: 0.472

Gnomad NFE AF: 0.435

Gnomad OTH AF: 0.423

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

GnomAD4 genome AF: 0.385 AC: 58506 AN: 151962 Hom.: 12175 Cov.: 31 AF XY: 0.391 AC XY: 29053 AN XY: 74268

African (AFR) AF: 0.217 AC: 8997 AN: 41446

American (AMR) AF: 0.476 AC: 7254 AN: 15248

Ashkenazi Jewish (ASJ) AF: 0.399 AC: 1386 AN: 3470

East Asian (EAS) AF: 0.457 AC: 2361 AN: 5170

South Asian (SAS) AF: 0.532 AC: 2559 AN: 4810

European-Finnish (FIN) AF: 0.458 AC: 4832 AN: 10554

Middle Eastern (MID) AF: 0.480 AC: 141 AN: 294

European-Non Finnish (NFE) AF: 0.435 AC: 29545 AN: 67960

Other (OTH) AF: 0.423 AC: 890 AN: 2102

Alfa AF: 0.418 Hom.: 16730

Bravo AF: 0.380

Asia WGS AF: 0.458 AC: 1591 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	0.91
DANN	Benign	0.53
PhyloP100		-0.45

Splicing

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

Other links and lift over

dbSNP: rs12541267; hg19: chr8-18181069;