rs7909151

Variant names:

• chr10-4983904-G-A
• rs7909151

Your query was ambiguous. Multiple possible variants found:

• chr10-4983904-G-A
• chr10-4983904-G-C

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 0.531 in 152,044 control chromosomes in the GnomAD database, including 22,232 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 0.53 (22232 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.271
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.916 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: 0.531 AC: 80621 AN: 151926 Hom.: 22223 Cov.: 32

Gnomad AFR AF: 0.533

Gnomad AMI AF: 0.412

Gnomad AMR AF: 0.586

Gnomad ASJ AF: 0.641

Gnomad EAS AF: 0.938

Gnomad SAS AF: 0.676

Gnomad FIN AF: 0.415

Gnomad MID AF: 0.718

Gnomad NFE AF: 0.488

Gnomad OTH AF: 0.564

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

GnomAD4 genome AF: 0.531 AC: 80683 AN: 152044 Hom.: 22232 Cov.: 32 AF XY: 0.535 AC XY: 39783 AN XY: 74342

African (AFR) AF: 0.533 AC: 22105 AN: 41452

American (AMR) AF: 0.586 AC: 8952 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.641 AC: 2223 AN: 3468

East Asian (EAS) AF: 0.938 AC: 4839 AN: 5160

South Asian (SAS) AF: 0.674 AC: 3252 AN: 4822

European-Finnish (FIN) AF: 0.415 AC: 4382 AN: 10558

Middle Eastern (MID) AF: 0.721 AC: 212 AN: 294

European-Non Finnish (NFE) AF: 0.488 AC: 33142 AN: 67978

Other (OTH) AF: 0.568 AC: 1200 AN: 2114

Alfa AF: 0.509 Hom.: 78898

Bravo AF: 0.543

Asia WGS AF: 0.729 AC: 2533 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	2.3
DANN	Benign	0.23
PhyloP100		-0.27

Splicing

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

Other links and lift over

dbSNP: rs7909151; hg19: chr10-5026096;