rs11783821

Variant names:

• chr8-82520833-G-A
• rs11783821
• ENST00000522776.5:n.450+2400C>T

Your query was ambiguous. Multiple possible variants found:

• chr8-82520833-G-A
• chr8-82520833-G-C
• chr8-82520833-G-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000522776.5(ENSG00000253503):​n.450+2400C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.206 in 152,050 control chromosomes in the GnomAD database, including 3,831 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 0.21 (3831 hom., cov: 32)
• Consequence: ENSG00000253503 ENST00000522776.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0180
• Publications: 1 publications found

Genes affected

ENSG00000253503 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.318 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000522776.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

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

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000253503	ENST00000522776.5	TSL:4	n.450+2400C>T		intron	N/A
	ENSG00000254394	ENST00000658531.1		n.149+32560G>A		intron	N/A
	ENSG00000254394	ENST00000659043.1		n.387-19083G>A		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.206 AC: 31331 AN: 151932 Hom.: 3826 Cov.: 32

Gnomad AFR AF: 0.323

Gnomad AMI AF: 0.0789

Gnomad AMR AF: 0.266

Gnomad ASJ AF: 0.190

Gnomad EAS AF: 0.286

Gnomad SAS AF: 0.151

Gnomad FIN AF: 0.124

Gnomad MID AF: 0.212

Gnomad NFE AF: 0.135

Gnomad OTH AF: 0.211

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

GnomAD4 genome AF: 0.206 AC: 31358 AN: 152050 Hom.: 3831 Cov.: 32 AF XY: 0.206 AC XY: 15277 AN XY: 74324

African (AFR) AF: 0.322 AC: 13365 AN: 41450

American (AMR) AF: 0.266 AC: 4066 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.190 AC: 660 AN: 3472

East Asian (EAS) AF: 0.286 AC: 1473 AN: 5158

South Asian (SAS) AF: 0.151 AC: 724 AN: 4808

European-Finnish (FIN) AF: 0.124 AC: 1307 AN: 10570

Middle Eastern (MID) AF: 0.218 AC: 64 AN: 294

European-Non Finnish (NFE) AF: 0.135 AC: 9179 AN: 68002

Other (OTH) AF: 0.213 AC: 448 AN: 2108

Alfa AF: 0.104 Hom.: 243

Bravo AF: 0.225

Asia WGS AF: 0.226 AC: 783 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	2.9
DANN	Benign	0.51
PhyloP100		-0.018

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs11783821;

hg19: chr8-83433068;