rs7906450

chr10-95593669-A-Cchr10-95593669-A-G

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 0.228 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

ACMG classification

Verdict is Benign. Variant got -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.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

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

Gnomad4 AFR AF: 0.395

Gnomad4 AMR AF: 0.168

Gnomad4 ASJ AF: 0.326

Gnomad4 EAS AF: 0.208

Gnomad4 SAS AF: 0.219

Gnomad4 FIN AF: 0.105

Gnomad4 NFE AF: 0.155

Gnomad4 OTH AF: 0.252

Alfa AF: 0.176 Hom.: 2497

Bravo AF: 0.240

Asia WGS AF: 0.216 AC: 751 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
Cadd	Benign	3.0
Dann	Benign	0.67

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7906450; hg19: chr10-97353426;