rs2830507

Variant names:

• chr21-26787180-A-G
• rs2830507

Your query was ambiguous. Multiple possible variants found:

• chr21-26787180-A-G
• chr21-26787180-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 0.9 in 147,706 control chromosomes in the GnomAD database, including 61,036 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 0.90 (61036 hom., cov: 26)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.354
• Publications: 1 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 (NFE) allele frequency at 95% confidence interval = 0.977 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.900 AC: 132948 AN: 147662 Hom.: 61003 Cov.: 26

Gnomad AFR AF: 0.812

Gnomad AMI AF: 0.980

Gnomad AMR AF: 0.919

Gnomad ASJ AF: 0.975

Gnomad EAS AF: 0.382

Gnomad SAS AF: 0.893

Gnomad FIN AF: 0.895

Gnomad MID AF: 0.967

Gnomad NFE AF: 0.983

Gnomad OTH AF: 0.902

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

GnomAD4 genome AF: 0.900 AC: 133006 AN: 147706 Hom.: 61036 Cov.: 26 AF XY: 0.893 AC XY: 63895 AN XY: 71550

African (AFR) AF: 0.813 AC: 32727 AN: 40264

American (AMR) AF: 0.919 AC: 13579 AN: 14768

Ashkenazi Jewish (ASJ) AF: 0.975 AC: 3381 AN: 3466

East Asian (EAS) AF: 0.381 AC: 1937 AN: 5080

South Asian (SAS) AF: 0.894 AC: 4219 AN: 4720

European-Finnish (FIN) AF: 0.895 AC: 7678 AN: 8574

Middle Eastern (MID) AF: 0.964 AC: 270 AN: 280

European-Non Finnish (NFE) AF: 0.983 AC: 66480 AN: 67600

Other (OTH) AF: 0.902 AC: 1847 AN: 2048

Alfa AF: 0.960 Hom.: 85176

Bravo AF: 0.895

Asia WGS AF: 0.670 AC: 2333 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	3.1
DANN	Benign	0.44
PhyloP100		0.35

Splicing

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

Other links and lift over

dbSNP: rs2830507; hg19: chr21-28159499;