18-67284976-C-T

Variant names:

• chr18-67284976-C-T
• rs8099213

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 0.408 in 151,890 control chromosomes in the GnomAD database, including 13,357 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 0.41 (13357 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.763
• Publications: 7 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 = 0.791 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: 0.408 AC: 61925 AN: 151768 Hom.: 13347 Cov.: 32

Gnomad AFR AF: 0.461

Gnomad AMI AF: 0.475

Gnomad AMR AF: 0.362

Gnomad ASJ AF: 0.356

Gnomad EAS AF: 0.812

Gnomad SAS AF: 0.556

Gnomad FIN AF: 0.379

Gnomad MID AF: 0.392

Gnomad NFE AF: 0.352

Gnomad OTH AF: 0.399

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

GnomAD4 genome AF: 0.408 AC: 61975 AN: 151890 Hom.: 13357 Cov.: 32 AF XY: 0.415 AC XY: 30792 AN XY: 74222

African (AFR) AF: 0.461 AC: 19090 AN: 41420

American (AMR) AF: 0.361 AC: 5520 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.356 AC: 1235 AN: 3468

East Asian (EAS) AF: 0.811 AC: 4193 AN: 5168

South Asian (SAS) AF: 0.554 AC: 2668 AN: 4812

European-Finnish (FIN) AF: 0.379 AC: 3988 AN: 10528

Middle Eastern (MID) AF: 0.394 AC: 115 AN: 292

European-Non Finnish (NFE) AF: 0.352 AC: 23886 AN: 67918

Other (OTH) AF: 0.403 AC: 847 AN: 2102

Alfa AF: 0.375 Hom.: 34100

Bravo AF: 0.406

Asia WGS AF: 0.670 AC: 2319 AN: 3464

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.85
DANN	Benign	0.26
PhyloP100		-0.76

Splicing

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

Other links and lift over

dbSNP: rs8099213; hg19: chr18-64952213;