rs2836613

Variant names:

• chr21-38675252-G-A
• rs2836613

Your query was ambiguous. Multiple possible variants found:

• chr21-38675252-G-A
• chr21-38675252-G-C

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 0.747 in 150,954 control chromosomes in the GnomAD database, including 42,197 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 0.75 (42197 hom., cov: 26)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.100
• Publications: 10 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.771 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: 0.747 AC: 112713 AN: 150838 Hom.: 42146 Cov.: 26

Gnomad AFR AF: 0.719

Gnomad AMI AF: 0.879

Gnomad AMR AF: 0.745

Gnomad ASJ AF: 0.824

Gnomad EAS AF: 0.739

Gnomad SAS AF: 0.790

Gnomad FIN AF: 0.729

Gnomad MID AF: 0.774

Gnomad NFE AF: 0.760

Gnomad OTH AF: 0.731

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

GnomAD4 genome AF: 0.747 AC: 112816 AN: 150954 Hom.: 42197 Cov.: 26 AF XY: 0.748 AC XY: 55128 AN XY: 73712

African (AFR) AF: 0.720 AC: 29480 AN: 40964

American (AMR) AF: 0.745 AC: 11275 AN: 15140

Ashkenazi Jewish (ASJ) AF: 0.824 AC: 2853 AN: 3464

East Asian (EAS) AF: 0.739 AC: 3776 AN: 5112

South Asian (SAS) AF: 0.792 AC: 3781 AN: 4776

European-Finnish (FIN) AF: 0.729 AC: 7559 AN: 10366

Middle Eastern (MID) AF: 0.788 AC: 230 AN: 292

European-Non Finnish (NFE) AF: 0.760 AC: 51539 AN: 67848

Other (OTH) AF: 0.732 AC: 1525 AN: 2084

Alfa AF: 0.758 Hom.: 21807

Bravo AF: 0.747

Asia WGS AF: 0.752 AC: 2614 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	5.7
DANN	Benign	0.71
PhyloP100		0.10

Splicing

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

Other links and lift over

dbSNP: rs2836613; hg19: chr21-40047176;