rs7906450

Variant names:

• chr10-95593669-A-C
• rs7906450

Your query was ambiguous. Multiple possible variants found:

• chr10-95593669-A-C
• chr10-95593669-A-G

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 0.228 in 150,896 control chromosomes in the GnomAD database, including 4,874 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 0.23 (4874 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.886
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.39 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: 0.228 AC: 34362 AN: 150810 Hom.: 4870 Cov.: 31

Gnomad AFR AF: 0.395

Gnomad AMI AF: 0.222

Gnomad AMR AF: 0.168

Gnomad ASJ AF: 0.326

Gnomad EAS AF: 0.207

Gnomad SAS AF: 0.218

Gnomad FIN AF: 0.105

Gnomad MID AF: 0.340

Gnomad NFE AF: 0.155

Gnomad OTH AF: 0.252

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

GnomAD4 genome AF: 0.228 AC: 34395 AN: 150896 Hom.: 4874 Cov.: 31 AF XY: 0.225 AC XY: 16543 AN XY: 73618

African (AFR) AF: 0.395 AC: 16224 AN: 41064

American (AMR) AF: 0.168 AC: 2548 AN: 15150

Ashkenazi Jewish (ASJ) AF: 0.326 AC: 1130 AN: 3466

East Asian (EAS) AF: 0.208 AC: 1064 AN: 5126

South Asian (SAS) AF: 0.219 AC: 1048 AN: 4778

European-Finnish (FIN) AF: 0.105 AC: 1063 AN: 10170

Middle Eastern (MID) AF: 0.348 AC: 101 AN: 290

European-Non Finnish (NFE) AF: 0.155 AC: 10488 AN: 67854

Other (OTH) AF: 0.252 AC: 527 AN: 2090

Alfa AF: 0.186 Hom.: 3811

Bravo AF: 0.240

Asia WGS AF: 0.216 AC: 751 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	3.0
DANN	Benign	0.67
PhyloP100		-0.89

Splicing

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

Other links and lift over

dbSNP: rs7906450; hg19: chr10-97353426;