rs722782

Variant names:

• chr8-566479-A-C
• rs722782
• ENST00000729109.1:n.365+3670A>C

Your query was ambiguous. Multiple possible variants found:

• chr8-566479-A-C
• chr8-566479-A-G
• chr8-566479-A-T

Variant summary

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

The ENST00000729109.1(ENSG00000295301):​n.365+3670A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.842 in 152,176 control chromosomes in the GnomAD database, including 54,643 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 0.84 (54643 hom., cov: 33)
• Consequence: ENSG00000295301 ENST00000729109.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.833
• Publications: 8 publications found

Genes affected

ENSG00000295301 (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 = 0.899 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
ENSG00000295301	ENST00000729109.1	n.365+3670A>C		intron_variant	Intron 1 of 2

Frequencies

GnomAD3 genomes AF: 0.842 AC: 128071 AN: 152058 Hom.: 54641 Cov.: 33

Gnomad AFR AF: 0.765

Gnomad AMI AF: 0.968

Gnomad AMR AF: 0.855

Gnomad ASJ AF: 0.873

Gnomad EAS AF: 0.450

Gnomad SAS AF: 0.791

Gnomad FIN AF: 0.913

Gnomad MID AF: 0.920

Gnomad NFE AF: 0.905

Gnomad OTH AF: 0.842

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

GnomAD4 genome AF: 0.842 AC: 128116 AN: 152176 Hom.: 54643 Cov.: 33 AF XY: 0.839 AC XY: 62432 AN XY: 74396

African (AFR) AF: 0.765 AC: 31734 AN: 41498

American (AMR) AF: 0.855 AC: 13077 AN: 15302

Ashkenazi Jewish (ASJ) AF: 0.873 AC: 3030 AN: 3470

East Asian (EAS) AF: 0.450 AC: 2319 AN: 5154

South Asian (SAS) AF: 0.791 AC: 3818 AN: 4826

European-Finnish (FIN) AF: 0.913 AC: 9684 AN: 10604

Middle Eastern (MID) AF: 0.914 AC: 267 AN: 292

European-Non Finnish (NFE) AF: 0.905 AC: 61527 AN: 68004

Other (OTH) AF: 0.841 AC: 1777 AN: 2114

Alfa AF: 0.881 Hom.: 172225

Bravo AF: 0.835

Asia WGS AF: 0.658 AC: 2289 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	2.6
DANN	Benign	0.68
PhyloP100		0.83

Splicing

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

Other links and lift over

dbSNP: rs722782; hg19: chr8-516479;