rs1359885

Variant names:

• chr9-36126330-C-G
• rs1359885

Your query was ambiguous. Multiple possible variants found:

• chr9-36126330-C-G
• chr9-36126330-C-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 0.637 in 152,034 control chromosomes in the GnomAD database, including 30,941 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 0.64 (30941 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.882

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.722 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: 0.637 AC: 96700 AN: 151914 Hom.: 30894 Cov.: 32

Gnomad AFR AF: 0.653

Gnomad AMI AF: 0.561

Gnomad AMR AF: 0.579

Gnomad ASJ AF: 0.729

Gnomad EAS AF: 0.741

Gnomad SAS AF: 0.738

Gnomad FIN AF: 0.638

Gnomad MID AF: 0.750

Gnomad NFE AF: 0.619

Gnomad OTH AF: 0.662

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

GnomAD4 genome AF: 0.637 AC: 96808 AN: 152034 Hom.: 30941 Cov.: 32 AF XY: 0.641 AC XY: 47621 AN XY: 74332

Gnomad4 AFR AF: 0.654

Gnomad4 AMR AF: 0.578

Gnomad4 ASJ AF: 0.729

Gnomad4 EAS AF: 0.742

Gnomad4 SAS AF: 0.738

Gnomad4 FIN AF: 0.638

Gnomad4 NFE AF: 0.619

Gnomad4 OTH AF: 0.667

Alfa AF: 0.616 Hom.: 3584

Bravo AF: 0.630

Asia WGS AF: 0.716 AC: 2490 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.1
DANN	Benign	0.67

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1359885; hg19: chr9-36126327;