rs1860182

Variant names:

• chr17-34290418-G-A
• rs1860182

Your query was ambiguous. Multiple possible variants found:

• chr17-34290418-G-A
• chr17-34290418-G-C

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 0.402 in 151,936 control chromosomes in the GnomAD database, including 12,520 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 0.40 (12520 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.55
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.446 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: 0.402 AC: 60961 AN: 151818 Hom.: 12507 Cov.: 32

Gnomad AFR AF: 0.340

Gnomad AMI AF: 0.276

Gnomad AMR AF: 0.337

Gnomad ASJ AF: 0.465

Gnomad EAS AF: 0.363

Gnomad SAS AF: 0.464

Gnomad FIN AF: 0.431

Gnomad MID AF: 0.354

Gnomad NFE AF: 0.446

Gnomad OTH AF: 0.396

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

GnomAD4 genome AF: 0.402 AC: 61006 AN: 151936 Hom.: 12520 Cov.: 32 AF XY: 0.401 AC XY: 29790 AN XY: 74230

African (AFR) AF: 0.340 AC: 14073 AN: 41412

American (AMR) AF: 0.337 AC: 5144 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.465 AC: 1614 AN: 3472

East Asian (EAS) AF: 0.362 AC: 1868 AN: 5164

South Asian (SAS) AF: 0.462 AC: 2220 AN: 4808

European-Finnish (FIN) AF: 0.431 AC: 4547 AN: 10542

Middle Eastern (MID) AF: 0.378 AC: 111 AN: 294

European-Non Finnish (NFE) AF: 0.446 AC: 30337 AN: 67946

Other (OTH) AF: 0.399 AC: 841 AN: 2106

Alfa AF: 0.436 Hom.: 10900

Bravo AF: 0.388

Asia WGS AF: 0.421 AC: 1465 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.048
DANN	Benign	0.50
PhyloP100		-1.6

Splicing

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

Other links and lift over

dbSNP: rs1860182; hg19: chr17-32617437;