rs214836

Variant names:

• chr20-2343645-C-A
• rs214836

Your query was ambiguous. Multiple possible variants found:

• chr20-2343645-C-A
• chr20-2343645-C-G
• chr20-2343645-C-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 0.686 in 151,896 control chromosomes in the GnomAD database, including 37,056 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 0.69 (37056 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.897
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.883 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: 0.686 AC: 104166 AN: 151778 Hom.: 37014 Cov.: 30

Gnomad AFR AF: 0.865

Gnomad AMI AF: 0.437

Gnomad AMR AF: 0.642

Gnomad ASJ AF: 0.485

Gnomad EAS AF: 0.905

Gnomad SAS AF: 0.739

Gnomad FIN AF: 0.640

Gnomad MID AF: 0.592

Gnomad NFE AF: 0.589

Gnomad OTH AF: 0.675

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

GnomAD4 genome AF: 0.686 AC: 104263 AN: 151896 Hom.: 37056 Cov.: 30 AF XY: 0.689 AC XY: 51111 AN XY: 74216

African (AFR) AF: 0.864 AC: 35811 AN: 41430

American (AMR) AF: 0.642 AC: 9807 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.485 AC: 1683 AN: 3470

East Asian (EAS) AF: 0.904 AC: 4678 AN: 5172

South Asian (SAS) AF: 0.739 AC: 3556 AN: 4810

European-Finnish (FIN) AF: 0.640 AC: 6741 AN: 10526

Middle Eastern (MID) AF: 0.595 AC: 175 AN: 294

European-Non Finnish (NFE) AF: 0.589 AC: 39992 AN: 67908

Other (OTH) AF: 0.676 AC: 1426 AN: 2110

Alfa AF: 0.654 Hom.: 4161

Bravo AF: 0.696

Asia WGS AF: 0.790 AC: 2744 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.84
DANN	Benign	0.19
PhyloP100		-0.90

Splicing

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

Other links and lift over

dbSNP: rs214836; hg19: chr20-2324291;