rs11783707

Variant names:

• chr8-8732099-G-A
• rs11783707
• ENST00000522213.5:n.625-8365C>T

Your query was ambiguous. Multiple possible variants found:

• chr8-8732099-G-A
• chr8-8732099-G-C
• chr8-8732099-G-T

Variant summary

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

The ENST00000522213.5(ENSG00000254367):​n.625-8365C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.123 in 152,140 control chromosomes in the GnomAD database, including 1,583 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 0.12 (1583 hom., cov: 32)
• Consequence: ENSG00000254367 ENST00000522213.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.620
• Publications: 4 publications found

Genes affected

ENSG00000254367 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.178 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000522213.5. 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
	ENSG00000254367	ENST00000522213.5	TSL:2	n.625-8365C>T		intron	N/A
	ENSG00000254367	ENST00000765578.1		n.456-8365C>T		intron	N/A
	ENSG00000254367	ENST00000765579.1		n.407-7060C>T		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.123 AC: 18763 AN: 152022 Hom.: 1583 Cov.: 32

Gnomad AFR AF: 0.0323

Gnomad AMI AF: 0.104

Gnomad AMR AF: 0.0889

Gnomad ASJ AF: 0.167

Gnomad EAS AF: 0.0467

Gnomad SAS AF: 0.152

Gnomad FIN AF: 0.173

Gnomad MID AF: 0.114

Gnomad NFE AF: 0.180

Gnomad OTH AF: 0.139

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

GnomAD4 genome AF: 0.123 AC: 18764 AN: 152140 Hom.: 1583 Cov.: 32 AF XY: 0.123 AC XY: 9175 AN XY: 74390

African (AFR) AF: 0.0322 AC: 1338 AN: 41522

American (AMR) AF: 0.0888 AC: 1357 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.167 AC: 581 AN: 3470

East Asian (EAS) AF: 0.0467 AC: 241 AN: 5166

South Asian (SAS) AF: 0.152 AC: 732 AN: 4816

European-Finnish (FIN) AF: 0.173 AC: 1830 AN: 10582

Middle Eastern (MID) AF: 0.126 AC: 37 AN: 294

European-Non Finnish (NFE) AF: 0.180 AC: 12266 AN: 67984

Other (OTH) AF: 0.136 AC: 287 AN: 2108

Alfa AF: 0.0988 Hom.: 212

Bravo AF: 0.110

Asia WGS AF: 0.0870 AC: 303 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	4.0
DANN	Benign	0.62
PhyloP100		0.62

Splicing

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

Other links and lift over

dbSNP: rs11783707; hg19: chr8-8589609;