rs7094308

Variant names:

• chr10-130839042-C-T
• rs7094308

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 0.326 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
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

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: 0.326 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

African (AFR) AF: 0.184 AC: 7522 AN: 40888

American (AMR) AF: 0.381 AC: 5574 AN: 14614

Ashkenazi Jewish (ASJ) AF: 0.367 AC: 1235 AN: 3366

East Asian (EAS) AF: 0.390 AC: 1981 AN: 5084

South Asian (SAS) AF: 0.249 AC: 1169 AN: 4690

European-Finnish (FIN) AF: 0.404 AC: 4043 AN: 9998

Middle Eastern (MID) AF: 0.348 AC: 98 AN: 282

European-Non Finnish (NFE) AF: 0.389 AC: 25698 AN: 66056

Other (OTH) AF: 0.368 AC: 741 AN: 2012

Alfa AF: 0.349 Hom.: 1332

Asia WGS AF: 0.313 AC: 1085 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.99
DANN	Benign	0.23
PhyloP100		-0.21

Splicing

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

Other links and lift over

dbSNP: rs7094308; hg19: chr10-132637305;