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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.900 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

Gnomad4 AFR AF: 0.813

Gnomad4 AMR AF: 0.919

Gnomad4 ASJ AF: 0.975

Gnomad4 EAS AF: 0.381

Gnomad4 SAS AF: 0.894

Gnomad4 FIN AF: 0.895

Gnomad4 NFE AF: 0.983

Gnomad4 OTH AF: 0.902

Alfa AF: 0.968 Hom.: 65021

Bravo AF: 0.895

Asia WGS AF: 0.670 AC: 2333 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2830507; hg19: chr21-28159499;