rs2836326

Variant names:

• chr21-38349842-C-G
• rs2836326

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 0.307 in 152,076 control chromosomes in the GnomAD database, including 7,550 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 0.31 (7550 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.393
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.527 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: 0.307 AC: 46608 AN: 151956 Hom.: 7545 Cov.: 33

Gnomad AFR AF: 0.330

Gnomad AMI AF: 0.436

Gnomad AMR AF: 0.296

Gnomad ASJ AF: 0.391

Gnomad EAS AF: 0.543

Gnomad SAS AF: 0.443

Gnomad FIN AF: 0.238

Gnomad MID AF: 0.430

Gnomad NFE AF: 0.271

Gnomad OTH AF: 0.316

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

GnomAD4 genome AF: 0.307 AC: 46646 AN: 152076 Hom.: 7550 Cov.: 33 AF XY: 0.309 AC XY: 22974 AN XY: 74332

African (AFR) AF: 0.330 AC: 13683 AN: 41476

American (AMR) AF: 0.296 AC: 4532 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.391 AC: 1355 AN: 3468

East Asian (EAS) AF: 0.544 AC: 2809 AN: 5162

South Asian (SAS) AF: 0.443 AC: 2133 AN: 4814

European-Finnish (FIN) AF: 0.238 AC: 2514 AN: 10574

Middle Eastern (MID) AF: 0.415 AC: 122 AN: 294

European-Non Finnish (NFE) AF: 0.271 AC: 18435 AN: 67978

Other (OTH) AF: 0.315 AC: 666 AN: 2114

Alfa AF: 0.285 Hom.: 751

Bravo AF: 0.309

Asia WGS AF: 0.486 AC: 1689 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	4.1
DANN	Benign	0.37
PhyloP100		0.39

Splicing

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

Other links and lift over

dbSNP: rs2836326; hg19: chr21-39721764;