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).

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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 v4.9

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;