rs363324

Variant names:

• chr10-117229651-G-A
• rs363324

Your query was ambiguous. Multiple possible variants found:

• chr10-117229651-G-A
• chr10-117229651-G-C
• chr10-117229651-G-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 0.572 in 152,096 control chromosomes in the GnomAD database, including 27,868 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 0.57 (27868 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00200
• Publications: 10 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 = 0.705 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: 0.573 AC: 87021 AN: 151978 Hom.: 27866 Cov.: 33

Gnomad AFR AF: 0.300

Gnomad AMI AF: 0.560

Gnomad AMR AF: 0.622

Gnomad ASJ AF: 0.756

Gnomad EAS AF: 0.214

Gnomad SAS AF: 0.592

Gnomad FIN AF: 0.780

Gnomad MID AF: 0.704

Gnomad NFE AF: 0.710

Gnomad OTH AF: 0.610

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

GnomAD4 genome AF: 0.572 AC: 87021 AN: 152096 Hom.: 27868 Cov.: 33 AF XY: 0.576 AC XY: 42817 AN XY: 74346

African (AFR) AF: 0.299 AC: 12408 AN: 41448

American (AMR) AF: 0.622 AC: 9503 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.756 AC: 2622 AN: 3470

East Asian (EAS) AF: 0.214 AC: 1105 AN: 5172

South Asian (SAS) AF: 0.593 AC: 2859 AN: 4824

European-Finnish (FIN) AF: 0.780 AC: 8259 AN: 10588

Middle Eastern (MID) AF: 0.712 AC: 208 AN: 292

European-Non Finnish (NFE) AF: 0.710 AC: 48278 AN: 67992

Other (OTH) AF: 0.601 AC: 1269 AN: 2110

Alfa AF: 0.658 Hom.: 118705

Bravo AF: 0.542

Asia WGS AF: 0.379 AC: 1321 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	2.6
DANN	Benign	0.27
PhyloP100		0.0020

Splicing

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

Other links and lift over

dbSNP: rs363324; hg19: chr10-118989162;