rs10505616

Variant names:

• chr8-134023680-A-G
• rs10505616

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 0.27 in 152,002 control chromosomes in the GnomAD database, including 5,818 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 0.27 (5818 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.141
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.301 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: 0.270 AC: 41052 AN: 151884 Hom.: 5811 Cov.: 31

Gnomad AFR AF: 0.263

Gnomad AMI AF: 0.335

Gnomad AMR AF: 0.205

Gnomad ASJ AF: 0.315

Gnomad EAS AF: 0.00155

Gnomad SAS AF: 0.199

Gnomad FIN AF: 0.311

Gnomad MID AF: 0.323

Gnomad NFE AF: 0.305

Gnomad OTH AF: 0.273

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

GnomAD4 genome AF: 0.270 AC: 41076 AN: 152002 Hom.: 5818 Cov.: 31 AF XY: 0.266 AC XY: 19740 AN XY: 74294

African (AFR) AF: 0.263 AC: 10893 AN: 41430

American (AMR) AF: 0.205 AC: 3133 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.315 AC: 1093 AN: 3470

East Asian (EAS) AF: 0.00155 AC: 8 AN: 5164

South Asian (SAS) AF: 0.200 AC: 965 AN: 4822

European-Finnish (FIN) AF: 0.311 AC: 3289 AN: 10570

Middle Eastern (MID) AF: 0.320 AC: 94 AN: 294

European-Non Finnish (NFE) AF: 0.305 AC: 20726 AN: 67962

Other (OTH) AF: 0.270 AC: 570 AN: 2110

Alfa AF: 0.292 Hom.: 18418

Bravo AF: 0.260

Asia WGS AF: 0.108 AC: 377 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	2.0
DANN	Benign	0.29
PhyloP100		-0.14

Splicing

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

Other links and lift over

dbSNP: rs10505616; hg19: chr8-135035923;