rs9329300

Variant names:

• chr10-2747402-A-C
• rs9329300

Your query was ambiguous. Multiple possible variants found:

• chr10-2747402-A-C
• chr10-2747402-A-G
• chr10-2747402-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 0.907 in 152,234 control chromosomes in the GnomAD database, including 63,868 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 0.91 (63868 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.771
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.984 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: 0.907 AC: 138022 AN: 152116 Hom.: 63835 Cov.: 33

Gnomad AFR AF: 0.702

Gnomad AMI AF: 0.990

Gnomad AMR AF: 0.959

Gnomad ASJ AF: 0.999

Gnomad EAS AF: 0.948

Gnomad SAS AF: 0.990

Gnomad FIN AF: 0.998

Gnomad MID AF: 0.949

Gnomad NFE AF: 0.991

Gnomad OTH AF: 0.941

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

GnomAD4 genome AF: 0.907 AC: 138113 AN: 152234 Hom.: 63868 Cov.: 33 AF XY: 0.912 AC XY: 67916 AN XY: 74456

African (AFR) AF: 0.702 AC: 29106 AN: 41472

American (AMR) AF: 0.959 AC: 14677 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.999 AC: 3467 AN: 3472

East Asian (EAS) AF: 0.948 AC: 4915 AN: 5184

South Asian (SAS) AF: 0.990 AC: 4776 AN: 4824

European-Finnish (FIN) AF: 0.998 AC: 10601 AN: 10622

Middle Eastern (MID) AF: 0.946 AC: 278 AN: 294

European-Non Finnish (NFE) AF: 0.991 AC: 67397 AN: 68038

Other (OTH) AF: 0.942 AC: 1993 AN: 2116

Alfa AF: 0.965 Hom.: 171299

Bravo AF: 0.894

Asia WGS AF: 0.962 AC: 3346 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.96
DANN	Benign	0.29
PhyloP100		-0.77

Splicing

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

Other links and lift over

dbSNP: rs9329300; hg19: chr10-2789594;