chr18-8966146-G-T

Variant names:

• chr18-8966146-G-T
• rs10502386

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 0.387 in 152,004 control chromosomes in the GnomAD database, including 12,037 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 (12037 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.333
• Publications: 4 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 (NFE) allele frequency at 95% confidence interval = 0.465 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: 0.387 AC: 58753 AN: 151886 Hom.: 12027 Cov.: 32

Gnomad AFR AF: 0.265

Gnomad AMI AF: 0.470

Gnomad AMR AF: 0.366

Gnomad ASJ AF: 0.463

Gnomad EAS AF: 0.186

Gnomad SAS AF: 0.389

Gnomad FIN AF: 0.427

Gnomad MID AF: 0.386

Gnomad NFE AF: 0.469

Gnomad OTH AF: 0.408

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

GnomAD4 genome AF: 0.387 AC: 58800 AN: 152004 Hom.: 12037 Cov.: 32 AF XY: 0.383 AC XY: 28437 AN XY: 74310

African (AFR) AF: 0.265 AC: 10996 AN: 41438

American (AMR) AF: 0.366 AC: 5596 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.463 AC: 1605 AN: 3464

East Asian (EAS) AF: 0.186 AC: 958 AN: 5164

South Asian (SAS) AF: 0.390 AC: 1874 AN: 4810

European-Finnish (FIN) AF: 0.427 AC: 4507 AN: 10552

Middle Eastern (MID) AF: 0.388 AC: 114 AN: 294

European-Non Finnish (NFE) AF: 0.469 AC: 31868 AN: 67974

Other (OTH) AF: 0.404 AC: 854 AN: 2114

Alfa AF: 0.442 Hom.: 50174

Bravo AF: 0.377

Asia WGS AF: 0.247 AC: 859 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	2.3
DANN	Benign	0.51
PhyloP100		0.33

Splicing

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

Other links and lift over

dbSNP: rs10502386; hg19: chr18-8966144;