rs9870410

Variant names:

• chr3-30267268-C-T
• rs9870410

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 0.0776 in 152,222 control chromosomes in the GnomAD database, including 581 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 0.078 (581 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.152
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.134 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: 0.0777 AC: 11811 AN: 152104 Hom.: 580 Cov.: 33

Gnomad AFR AF: 0.137

Gnomad AMI AF: 0.0757

Gnomad AMR AF: 0.0548

Gnomad ASJ AF: 0.0972

Gnomad EAS AF: 0.000578

Gnomad SAS AF: 0.0598

Gnomad FIN AF: 0.0938

Gnomad MID AF: 0.105

Gnomad NFE AF: 0.0501

Gnomad OTH AF: 0.0793

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

GnomAD4 genome AF: 0.0776 AC: 11818 AN: 152222 Hom.: 581 Cov.: 33 AF XY: 0.0788 AC XY: 5861 AN XY: 74418

African (AFR) AF: 0.137 AC: 5690 AN: 41522

American (AMR) AF: 0.0547 AC: 836 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.0972 AC: 337 AN: 3468

East Asian (EAS) AF: 0.000580 AC: 3 AN: 5174

South Asian (SAS) AF: 0.0597 AC: 288 AN: 4826

European-Finnish (FIN) AF: 0.0938 AC: 994 AN: 10602

Middle Eastern (MID) AF: 0.106 AC: 31 AN: 292

European-Non Finnish (NFE) AF: 0.0501 AC: 3405 AN: 68024

Other (OTH) AF: 0.0780 AC: 165 AN: 2116

Alfa AF: 0.0600 Hom.: 557

Bravo AF: 0.0775

Asia WGS AF: 0.0470 AC: 162 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	6.5
DANN	Benign	0.59
PhyloP100		0.15

Splicing

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

Other links and lift over

dbSNP: rs9870410; hg19: chr3-30308759;