rs7895833

Variant names:

• chr10-67863299-G-A
• rs7895833

Your query was ambiguous. Multiple possible variants found:

• chr10-67863299-G-A
• chr10-67863299-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 0.743 in 152,024 control chromosomes in the GnomAD database, including 42,772 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 0.74 (42772 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.643
• Publications: 85 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.797 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.743 AC: 112938 AN: 151906 Hom.: 42748 Cov.: 31

Gnomad AFR AF: 0.740

Gnomad AMI AF: 0.602

Gnomad AMR AF: 0.715

Gnomad ASJ AF: 0.820

Gnomad EAS AF: 0.281

Gnomad SAS AF: 0.599

Gnomad FIN AF: 0.693

Gnomad MID AF: 0.680

Gnomad NFE AF: 0.803

Gnomad OTH AF: 0.746

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

GnomAD4 genome AF: 0.743 AC: 113010 AN: 152024 Hom.: 42772 Cov.: 31 AF XY: 0.733 AC XY: 54499 AN XY: 74308

African (AFR) AF: 0.740 AC: 30700 AN: 41486

American (AMR) AF: 0.714 AC: 10893 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.820 AC: 2844 AN: 3470

East Asian (EAS) AF: 0.281 AC: 1446 AN: 5148

South Asian (SAS) AF: 0.601 AC: 2893 AN: 4814

European-Finnish (FIN) AF: 0.693 AC: 7314 AN: 10552

Middle Eastern (MID) AF: 0.677 AC: 199 AN: 294

European-Non Finnish (NFE) AF: 0.803 AC: 54592 AN: 67982

Other (OTH) AF: 0.748 AC: 1580 AN: 2112

Alfa AF: 0.754 Hom.: 17278

Bravo AF: 0.739

Asia WGS AF: 0.515 AC: 1792 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	14
DANN	Benign	0.77
PhyloP100		0.64

Splicing

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

Other links and lift over

dbSNP: rs7895833; hg19: chr10-69623057;