rs2018498

Variant names:

• chr12-33150932-G-A
• rs2018498

Your query was ambiguous. Multiple possible variants found:

• chr12-33150932-G-A
• chr12-33150932-G-C
• chr12-33150932-G-T

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 0.516 in 143,184 control chromosomes in the GnomAD database, including 26,098 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 0.52 (26098 hom., cov: 28)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0340
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.925 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: 0.516 AC: 73797 AN: 143066 Hom.: 26054 Cov.: 28

Gnomad AFR AF: 0.758

Gnomad AMI AF: 0.445

Gnomad AMR AF: 0.501

Gnomad ASJ AF: 0.423

Gnomad EAS AF: 0.948

Gnomad SAS AF: 0.641

Gnomad FIN AF: 0.319

Gnomad MID AF: 0.406

Gnomad NFE AF: 0.361

Gnomad OTH AF: 0.473

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

GnomAD4 genome AF: 0.516 AC: 73898 AN: 143184 Hom.: 26098 Cov.: 28 AF XY: 0.520 AC XY: 36218 AN XY: 69714

African (AFR) AF: 0.758 AC: 30656 AN: 40450

American (AMR) AF: 0.500 AC: 6921 AN: 13832

Ashkenazi Jewish (ASJ) AF: 0.423 AC: 1364 AN: 3222

East Asian (EAS) AF: 0.948 AC: 4682 AN: 4940

South Asian (SAS) AF: 0.640 AC: 2864 AN: 4474

European-Finnish (FIN) AF: 0.319 AC: 3150 AN: 9884

Middle Eastern (MID) AF: 0.412 AC: 107 AN: 260

European-Non Finnish (NFE) AF: 0.361 AC: 22847 AN: 63344

Other (OTH) AF: 0.482 AC: 937 AN: 1946

Alfa AF: 0.486 Hom.: 4108

Asia WGS AF: 0.796 AC: 2669 AN: 3360

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	3.3
DANN	Benign	0.51
PhyloP100		0.034

Splicing

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

Other links and lift over

dbSNP: rs2018498; hg19: chr12-33303866;