rs7863577

Variant names:

• chr9-36539125-A-C
• rs7863577

Your query was ambiguous. Multiple possible variants found:

• chr9-36539125-A-C
• chr9-36539125-A-G
• chr9-36539125-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 0.781 in 152,040 control chromosomes in the GnomAD database, including 48,915 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 0.78 (48915 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.122
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.9 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: 0.782 AC: 118730 AN: 151922 Hom.: 48910 Cov.: 32

Gnomad AFR AF: 0.497

Gnomad AMI AF: 0.975

Gnomad AMR AF: 0.864

Gnomad ASJ AF: 0.865

Gnomad EAS AF: 0.894

Gnomad SAS AF: 0.785

Gnomad FIN AF: 0.870

Gnomad MID AF: 0.775

Gnomad NFE AF: 0.906

Gnomad OTH AF: 0.799

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

GnomAD4 genome AF: 0.781 AC: 118766 AN: 152040 Hom.: 48915 Cov.: 32 AF XY: 0.782 AC XY: 58103 AN XY: 74310

African (AFR) AF: 0.496 AC: 20559 AN: 41436

American (AMR) AF: 0.864 AC: 13201 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.865 AC: 3003 AN: 3470

East Asian (EAS) AF: 0.894 AC: 4604 AN: 5148

South Asian (SAS) AF: 0.785 AC: 3783 AN: 4820

European-Finnish (FIN) AF: 0.870 AC: 9205 AN: 10576

Middle Eastern (MID) AF: 0.772 AC: 227 AN: 294

European-Non Finnish (NFE) AF: 0.906 AC: 61609 AN: 68000

Other (OTH) AF: 0.798 AC: 1686 AN: 2112

Alfa AF: 0.864 Hom.: 70575

Bravo AF: 0.772

Asia WGS AF: 0.817 AC: 2837 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.3
DANN	Benign	0.76
PhyloP100		-0.12

Splicing

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

Other links and lift over

dbSNP: rs7863577; hg19: chr9-36539122;