rs17018765

Variant names:

• chr12-91115372-A-G
• rs17018765

Your query was ambiguous. Multiple possible variants found:

• chr12-91115372-A-G
• chr12-91115372-A-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 0.0922 in 152,132 control chromosomes in the GnomAD database, including 827 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 0.092 (827 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.911
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.153 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: 0.0922 AC: 14011 AN: 152014 Hom.: 825 Cov.: 32

Gnomad AFR AF: 0.157

Gnomad AMI AF: 0.0548

Gnomad AMR AF: 0.0728

Gnomad ASJ AF: 0.146

Gnomad EAS AF: 0.0609

Gnomad SAS AF: 0.0416

Gnomad FIN AF: 0.0443

Gnomad MID AF: 0.111

Gnomad NFE AF: 0.0683

Gnomad OTH AF: 0.0934

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

GnomAD4 genome AF: 0.0922 AC: 14032 AN: 152132 Hom.: 827 Cov.: 32 AF XY: 0.0897 AC XY: 6675 AN XY: 74378

African (AFR) AF: 0.157 AC: 6501 AN: 41496

American (AMR) AF: 0.0727 AC: 1109 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.146 AC: 507 AN: 3468

East Asian (EAS) AF: 0.0608 AC: 315 AN: 5178

South Asian (SAS) AF: 0.0414 AC: 200 AN: 4826

European-Finnish (FIN) AF: 0.0443 AC: 470 AN: 10614

Middle Eastern (MID) AF: 0.116 AC: 34 AN: 294

European-Non Finnish (NFE) AF: 0.0683 AC: 4642 AN: 67978

Other (OTH) AF: 0.0967 AC: 204 AN: 2110

Alfa AF: 0.0799 Hom.: 658

Bravo AF: 0.0977

Asia WGS AF: 0.0540 AC: 190 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.1
DANN	Benign	0.68
PhyloP100		-0.91

Splicing

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

Other links and lift over

dbSNP: rs17018765; hg19: chr12-91509149;