rs363371

Variant names:

• chr10-117226885-G-A
• rs363371

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 0.199 in 152,128 control chromosomes in the GnomAD database, including 3,658 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 0.20 (3658 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.912

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.541 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: 0.199 AC: 30269 AN: 152010 Hom.: 3649 Cov.: 32

Gnomad AFR AF: 0.119

Gnomad AMI AF: 0.414

Gnomad AMR AF: 0.154

Gnomad ASJ AF: 0.159

Gnomad EAS AF: 0.558

Gnomad SAS AF: 0.332

Gnomad FIN AF: 0.174

Gnomad MID AF: 0.161

Gnomad NFE AF: 0.225

Gnomad OTH AF: 0.183

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

GnomAD4 genome AF: 0.199 AC: 30298 AN: 152128 Hom.: 3658 Cov.: 32 AF XY: 0.199 AC XY: 14823 AN XY: 74364

Gnomad4 AFR AF: 0.119

Gnomad4 AMR AF: 0.155

Gnomad4 ASJ AF: 0.159

Gnomad4 EAS AF: 0.558

Gnomad4 SAS AF: 0.330

Gnomad4 FIN AF: 0.174

Gnomad4 NFE AF: 0.225

Gnomad4 OTH AF: 0.192

Alfa AF: 0.209 Hom.: 3453

Bravo AF: 0.194

Asia WGS AF: 0.437 AC: 1518 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.96
DANN	Benign	0.63

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs363371; hg19: chr10-118986396;