rs2186820

Variant names:

• chr18-853572-A-G
• rs2186820

Your query was ambiguous. Multiple possible variants found:

• chr18-853572-A-G
• chr18-853572-A-T

Variant summary

Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong

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 0.48 (18374 hom., cov: 27)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.255
• Publications: 1 publications found

ACMG classification

Our verdict: Likely_benign. The variant received -4 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).

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: 0.477 AC: 70947 AN: 148742 Hom.: 18358 Cov.: 27

Gnomad AFR AF: 0.265

Gnomad AMI AF: 0.704

Gnomad AMR AF: 0.525

Gnomad ASJ AF: 0.579

Gnomad EAS AF: 0.660

Gnomad SAS AF: 0.616

Gnomad FIN AF: 0.517

Gnomad MID AF: 0.636

Gnomad NFE AF: 0.553

Gnomad OTH AF: 0.512

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

GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.477 AC: 70981 AN: 148858 Hom.: 18374 Cov.: 27 AF XY: 0.478 AC XY: 34638 AN XY: 72460

African (AFR) AF: 0.265 AC: 10681 AN: 40290

American (AMR) AF: 0.524 AC: 7754 AN: 14786

Ashkenazi Jewish (ASJ) AF: 0.579 AC: 1990 AN: 3436

East Asian (EAS) AF: 0.659 AC: 3341 AN: 5066

South Asian (SAS) AF: 0.618 AC: 2889 AN: 4676

European-Finnish (FIN) AF: 0.517 AC: 5189 AN: 10044

Middle Eastern (MID) AF: 0.650 AC: 191 AN: 294

European-Non Finnish (NFE) AF: 0.553 AC: 37249 AN: 67314

Other (OTH) AF: 0.518 AC: 1063 AN: 2052

Alfa AF: 0.511 Hom.: 13395

Bravo AF: 0.463

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	12
DANN	Benign	0.83
PhyloP100		0.26

Splicing

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

Other links and lift over

dbSNP: rs2186820; hg19: chr18-853573;