rs765934

Variant names:

• chr10-128946084-G-A
• rs765934

Your query was ambiguous. Multiple possible variants found:

• chr10-128946084-G-A
• chr10-128946084-G-C
• chr10-128946084-G-T

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 0.679 in 151,984 control chromosomes in the GnomAD database, including 35,115 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 0.68 (35115 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.08
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.722 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: 0.679 AC: 103068 AN: 151866 Hom.: 35084 Cov.: 31

Gnomad AFR AF: 0.729

Gnomad AMI AF: 0.686

Gnomad AMR AF: 0.665

Gnomad ASJ AF: 0.717

Gnomad EAS AF: 0.687

Gnomad SAS AF: 0.598

Gnomad FIN AF: 0.645

Gnomad MID AF: 0.680

Gnomad NFE AF: 0.659

Gnomad OTH AF: 0.690

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

GnomAD4 genome AF: 0.679 AC: 103155 AN: 151984 Hom.: 35115 Cov.: 31 AF XY: 0.675 AC XY: 50099 AN XY: 74270

African (AFR) AF: 0.729 AC: 30223 AN: 41482

American (AMR) AF: 0.665 AC: 10156 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.717 AC: 2488 AN: 3472

East Asian (EAS) AF: 0.687 AC: 3524 AN: 5132

South Asian (SAS) AF: 0.599 AC: 2882 AN: 4814

European-Finnish (FIN) AF: 0.645 AC: 6804 AN: 10544

Middle Eastern (MID) AF: 0.687 AC: 202 AN: 294

European-Non Finnish (NFE) AF: 0.659 AC: 44808 AN: 67954

Other (OTH) AF: 0.684 AC: 1442 AN: 2108

Alfa AF: 0.667 Hom.: 125263

Bravo AF: 0.687

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.60
DANN	Benign	0.72
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs765934; hg19: chr10-130744348;