rs722740

Variant names:

• chr8-115949755-C-T
• rs722740

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 0.615 in 151,742 control chromosomes in the GnomAD database, including 28,982 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 0.62 (28982 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.149

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.679 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: 0.615 AC: 93323 AN: 151624 Hom.: 28967 Cov.: 32

Gnomad AFR AF: 0.687

Gnomad AMI AF: 0.754

Gnomad AMR AF: 0.579

Gnomad ASJ AF: 0.628

Gnomad EAS AF: 0.614

Gnomad SAS AF: 0.678

Gnomad FIN AF: 0.504

Gnomad MID AF: 0.687

Gnomad NFE AF: 0.590

Gnomad OTH AF: 0.633

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

GnomAD4 genome AF: 0.615 AC: 93372 AN: 151742 Hom.: 28982 Cov.: 32 AF XY: 0.611 AC XY: 45262 AN XY: 74124

Gnomad4 AFR AF: 0.686

Gnomad4 AMR AF: 0.579

Gnomad4 ASJ AF: 0.628

Gnomad4 EAS AF: 0.614

Gnomad4 SAS AF: 0.677

Gnomad4 FIN AF: 0.504

Gnomad4 NFE AF: 0.590

Gnomad4 OTH AF: 0.633

Alfa AF: 0.612 Hom.: 4826

Bravo AF: 0.630

Asia WGS AF: 0.678 AC: 2359 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	2.6
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: rs722740; hg19: chr8-116961980;