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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.782 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

Gnomad4 AFR AF: 0.496

Gnomad4 AMR AF: 0.864

Gnomad4 ASJ AF: 0.865

Gnomad4 EAS AF: 0.894

Gnomad4 SAS AF: 0.785

Gnomad4 FIN AF: 0.870

Gnomad4 NFE AF: 0.906

Gnomad4 OTH AF: 0.798

Alfa AF: 0.880 Hom.: 54356

Bravo AF: 0.772

Asia WGS AF: 0.817 AC: 2837 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7863577; hg19: chr9-36539122;