rs10094729

Variant names:

• chr8-61723603-A-G
• rs10094729

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 0.154 in 152,168 control chromosomes in the GnomAD database, including 1,934 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 0.15 (1934 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.73
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.77).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.275 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.154 AC: 23475 AN: 152052 Hom.: 1931 Cov.: 32

Gnomad AFR AF: 0.178

Gnomad AMI AF: 0.286

Gnomad AMR AF: 0.135

Gnomad ASJ AF: 0.195

Gnomad EAS AF: 0.175

Gnomad SAS AF: 0.288

Gnomad FIN AF: 0.108

Gnomad MID AF: 0.177

Gnomad NFE AF: 0.137

Gnomad OTH AF: 0.159

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

GnomAD4 genome AF: 0.154 AC: 23495 AN: 152168 Hom.: 1934 Cov.: 32 AF XY: 0.156 AC XY: 11620 AN XY: 74394

African (AFR) AF: 0.178 AC: 7373 AN: 41516

American (AMR) AF: 0.135 AC: 2065 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.195 AC: 676 AN: 3470

East Asian (EAS) AF: 0.176 AC: 910 AN: 5178

South Asian (SAS) AF: 0.288 AC: 1389 AN: 4826

European-Finnish (FIN) AF: 0.108 AC: 1140 AN: 10592

Middle Eastern (MID) AF: 0.167 AC: 49 AN: 294

European-Non Finnish (NFE) AF: 0.137 AC: 9289 AN: 67994

Other (OTH) AF: 0.163 AC: 344 AN: 2110

Alfa AF: 0.145 Hom.: 2255

Bravo AF: 0.154

Asia WGS AF: 0.228 AC: 793 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.77
CADD	Benign	14
DANN	Benign	0.81
PhyloP100		2.7

Splicing

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

Other links and lift over

dbSNP: rs10094729; hg19: chr8-62636162;