rs930506

Variant names:

• chr10-52776791-T-C
• rs930506

Variant summary

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

The variant allele was found at a frequency of 0.306 in 151,988 control chromosomes in the GnomAD database, including 8,767 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 (8767 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.322
• Publications: 10 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.539 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: 0.306 AC: 46401 AN: 151870 Hom.: 8750 Cov.: 31

Gnomad AFR AF: 0.545

Gnomad AMI AF: 0.188

Gnomad AMR AF: 0.218

Gnomad ASJ AF: 0.256

Gnomad EAS AF: 0.135

Gnomad SAS AF: 0.252

Gnomad FIN AF: 0.185

Gnomad MID AF: 0.264

Gnomad NFE AF: 0.220

Gnomad OTH AF: 0.283

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

GnomAD4 genome AF: 0.306 AC: 46454 AN: 151988 Hom.: 8767 Cov.: 31 AF XY: 0.301 AC XY: 22347 AN XY: 74294

African (AFR) AF: 0.544 AC: 22555 AN: 41424

American (AMR) AF: 0.218 AC: 3325 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.256 AC: 888 AN: 3468

East Asian (EAS) AF: 0.136 AC: 700 AN: 5164

South Asian (SAS) AF: 0.252 AC: 1212 AN: 4816

European-Finnish (FIN) AF: 0.185 AC: 1952 AN: 10578

Middle Eastern (MID) AF: 0.267 AC: 78 AN: 292

European-Non Finnish (NFE) AF: 0.220 AC: 14984 AN: 67956

Other (OTH) AF: 0.279 AC: 589 AN: 2108

Alfa AF: 0.252 Hom.: 4115

Bravo AF: 0.316

Asia WGS AF: 0.192 AC: 667 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.95
DANN	Benign	0.79
PhyloP100		-0.32

Splicing

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

Other links and lift over

dbSNP: rs930506; hg19: chr10-54536551;