rs2836326

chr21-38349842-C-G

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 0.307 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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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

Gnomad4 AFR AF: 0.330

Gnomad4 AMR AF: 0.296

Gnomad4 ASJ AF: 0.391

Gnomad4 EAS AF: 0.544

Gnomad4 SAS AF: 0.443

Gnomad4 FIN AF: 0.238

Gnomad4 NFE AF: 0.271

Gnomad4 OTH AF: 0.315

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2836326; hg19: chr21-39721764;