rs7094308

Variant names:

• chr10-130839042-C-T
• rs7094308

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 0.326 in 147,836 control chromosomes in the GnomAD database, including 10,693 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 0.33 (10693 hom., cov: 28)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.209

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.385 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: 0.326 AC: 48222 AN: 147720 Hom.: 10694 Cov.: 28

Gnomad AFR AF: 0.184

Gnomad AMI AF: 0.206

Gnomad AMR AF: 0.381

Gnomad ASJ AF: 0.367

Gnomad EAS AF: 0.389

Gnomad SAS AF: 0.250

Gnomad FIN AF: 0.404

Gnomad MID AF: 0.349

Gnomad NFE AF: 0.389

Gnomad OTH AF: 0.369

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

GnomAD4 genome AF: 0.326 AC: 48235 AN: 147836 Hom.: 10693 Cov.: 28 AF XY: 0.325 AC XY: 23405 AN XY: 71976

Gnomad4 AFR AF: 0.184

Gnomad4 AMR AF: 0.381

Gnomad4 ASJ AF: 0.367

Gnomad4 EAS AF: 0.390

Gnomad4 SAS AF: 0.249

Gnomad4 FIN AF: 0.404

Gnomad4 NFE AF: 0.389

Gnomad4 OTH AF: 0.368

Alfa AF: 0.349 Hom.: 1332

Asia WGS AF: 0.313 AC: 1085 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.99
DANN	Benign	0.23

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7094308; hg19: chr10-132637305;