rs7893600

Variant names:

• chr10-23145815-A-C
• rs7893600

Your query was ambiguous. Multiple possible variants found:

• chr10-23145815-A-C
• chr10-23145815-A-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 0.95 in 151,838 control chromosomes in the GnomAD database, including 69,183 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 0.95 (69183 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.406
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.991 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: 0.950 AC: 144083 AN: 151720 Hom.: 69136 Cov.: 29

Gnomad AFR AF: 0.957

Gnomad AMI AF: 1.00

Gnomad AMR AF: 0.793

Gnomad ASJ AF: 0.984

Gnomad EAS AF: 0.592

Gnomad SAS AF: 0.973

Gnomad FIN AF: 0.987

Gnomad MID AF: 0.994

Gnomad NFE AF: 0.997

Gnomad OTH AF: 0.948

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

GnomAD4 genome AF: 0.950 AC: 144183 AN: 151838 Hom.: 69183 Cov.: 29 AF XY: 0.946 AC XY: 70115 AN XY: 74156

African (AFR) AF: 0.957 AC: 39648 AN: 41424

American (AMR) AF: 0.793 AC: 12090 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.984 AC: 3411 AN: 3466

East Asian (EAS) AF: 0.591 AC: 3026 AN: 5122

South Asian (SAS) AF: 0.973 AC: 4669 AN: 4800

European-Finnish (FIN) AF: 0.987 AC: 10387 AN: 10520

Middle Eastern (MID) AF: 0.993 AC: 290 AN: 292

European-Non Finnish (NFE) AF: 0.997 AC: 67755 AN: 67944

Other (OTH) AF: 0.948 AC: 1995 AN: 2104

Alfa AF: 0.974 Hom.: 208462

Bravo AF: 0.930

Asia WGS AF: 0.798 AC: 2777 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.031
DANN	Benign	0.61
PhyloP100		-0.41

Splicing

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

Other links and lift over

dbSNP: rs7893600; hg19: chr10-23434744;